Cambridge University Press 978-1-107-44331-0 - Endocrine Pathology Edited by Ozgur Mete and Sylvia L. Asa Index More information

Index

abdominal imaging, 168–89, pituitary adenoma subtypes, perivascular, 982 parasitic, 594–5, 599 203–9 341–4 prostate-associated, 855 see vascular (endothelial), 597, abdominal paraganglioma, pituitary gangliocytoma, also brown adipose tissue; 599 extra-adrenal, 650–1 360–90 visceral adipose tissue adrenal disease macroscopic appearance, 651 radiological imaging, 11, 341 adnexal sweat gland carcinoma biochemical testing, 99–102 malignant, 661, 663 skin manifestations, 932 with neuroendocrine cardiovascular effects, 966–7 prognosis, 652 thyroid cancer risk, features, 924, 938 clinical presentation, 25–8 abiraterone acetate, 850 463 adrenal abscess, 595 CT and MRI, 179–89 abscess, adrenal, 595 ACTH, see adrenocorticotropic adrenal adenoma, see radionuclide imaging, 203–4 acanthosis nigricans hormone adrenocortical adenoma skin manifestations, 948–51 acromegaly, 932, 942 activin A, placental, 876, 881 adrenal adenomatosis, bilateral see also adrenal medullary hyperprolactinemia, 934 acute fatty liver of pregnancy, micronodular, see disease; adrenocortical insulin resistance, 944 757 primary pigmented disease achaete-scute homolog-1 adaptive immune response, 71 nodular adrenocortical adrenal failure, see adrenal human (hASH1) Addison disease, see also adrenal disease insufficiency cultured adrenal medullary insufficiency adrenal adhesion, 592 adrenal fusion, 592 cells, 634 adrenal infections causing, 594 adrenal cell lines, 273 adrenal glands, 588 pulmonary neuroendocrine autoimmune, 78–9, 595 adrenal collision tumor anatomy, 588–9 cells, 776–9 cardiovascular effects, 966–9 corticomedullary mixed calcification, 595–6 pulmonary neuroendocrine hepatic effects, 755 tumor, 645 developmental lesions, 592–3 proliferations, 791, 798 skin manifestations, 950, 954 imaging, 188–9 embryology, 588 mouse (Mash1), 634 adenohypophysis, 315 plurimorphous plurihormonal examination techniques, 591 acidophil stem cell adenoma, cell lineages, 318 adenoma, 356 imaging anatomy, 178–9 346 ectopic, 315–16, 327 adrenal cortex, 588–621 radionuclide imaging, 203–4 clinical presentation, 10 embryology, 315–16 anatomy, 588–9 secondary tumors, see adrenal management, 349–50 gross anatomy, 316 cytomorphology, 233 metastases morphological features, 346, hypothalamic regulation, developmental lesions, 592–3 tumor-like lesions, 594–9 348 285, 285–6 ectopic tissue, 589 weight, 589, 591 acidophils, pituitary, 317 imaging, 136–8 embryology, 588 adrenal hemangioma, imaging, acinar cell carcinoma, pancreatic, microscopic anatomy, 317–25 examination techniques, 591 188 235 adenoneuroendocrine fetal zone, 588–9 adrenal hematoma, 595 acne, Cushing syndrome, 948 carcinoma, mixed, see histology, 589 adrenal hemorrhage, 595 acrochordons, see skin tags mixed immunohistochemistry, 234 bilateral (Waterhouse– acromegaly, 8–11, 341–5 adenoneuroendocrine physiology, 589, 606 Friderichsen syndrome), cardiovascular effects, 961–2 carcinoma steroid biosynthesis pathway, 595 Carney complex, 971 adipocytes, 980–2 588–604 imaging, 188 clinical manifestations, 9–10, obesity-related stress, 74–5 zona fasciculata, 589 adrenal heterotopia, 592 341 ultrastructure, 985 zona glomerulosa, 589 hyperplastic, congenital clinicopathological adiponectin, obesity-related aldosterone secretion, adrenal hyperplasia, 592 correlations, 10 glomerulopathy, 822 606–7 adrenal hyperplasia, see adrenal diagnosis, 10–11, 95, 341 adipose tissue hyperplasia, adrenocortical medullary hyperplasia; ectopic, 29, 32–3, 787 anatomy, 982 adenoma, 611 adrenocortical epidemiology, 8 beige/brite, 982 zona reticularis, 589 hyperplasia etiology and genetics, 9 Cushing syndrome-related adrenal corticomedullary mixed adrenal incidentaloma familial, 9–10 deposition, 948–9 tumor, 645 18F-FDG PET imaging, 210 fugitive, 346 development, 979–82 adrenal cysts, 597–9 biochemical testing, 604 intraoperative consultations, histology, 982, 984 cytological assessment, 233 cytological assessment, 232 246–7 obesity-related inflammation, epithelial, 597, 599 epidemiology, 602 management, 345 74–5 imaging, 188 hyperplasia vs neoplasia, 602

1044

© in this web service Cambridge University Press www.cambridge.org Cambridge University Press 978-1-107-44331-0 - Endocrine Pathology Edited by Ozgur Mete and Sylvia L. Asa Index More information

Index

initial evaluation, 25–6 adrenal union, 592 micronodular, 613 histopathology, 610–14 management, 620 adrenal venous sampling, 606 primary pigmented nodular, imaging, 179–83, 605–6 adrenal infections, 189, 594–5 adrenalectomy cells, 320 see primary pigmented lesions mimicking, 594–9 adrenal insufficiency adrenalitis nodular adrenocortical macroscopic appearance, autoimmune Addison disease, autoimmune, 595 disease 609–10 78–9 focal, 595 adrenocortical hyperplasia, 602–3 microscopic examination, 252 biochemical testing, 99–100 adrenal–renal heterotopia, 592 ACTH dependence, 604 of uncertain malignant cardiovascular effects, 966–9 adrenocortical adenoma, 602 aldosterone-secreting, 610 potential, 620 central, 3–4, 6 aldosterone-secreting (Conn), bilateral/ACTH-independent pathogenesis, 608 cirrhosis, 763 28, 603 macronodular, see reticulin algorithm, 611, 617 corticotroph cell changes, 320 ancillary tools, 617 bilateral macronodular sex steroid producing, 604, 614 hepatic effects, 755 genotype–phenotype adrenocortical Weiss score, 614–17 see also infections causing, 594 correlations, 619 hyperplasia adrenocortical adenomas; see also Addison disease histopathology, 611 clinical presentation, 26, 603 adrenocortical carcinoma adrenal lymphoma, 188, 668 macroscopic appearance, cytopathology, 233–4 adrenocorticomedullary mixed adrenal masses 250, 609–10 diffuse, 602, 608 tumor, 645 cytological assessment, 232–3 management, 620 histopathology, 611–13 adrenocorticotropic hormone pathological examination, 591 atypical, 620 diffuse and nodular combined, (ACTH), 99 see also adrenal Carney complex, 62–3 602, 613 deficiency, 3–4 incidentaloma cortisol-secreting, 25, 604 epidemiology, 602–3 dependent Cushing syndrome, adrenal medulla, 628–68 genotype–phenotype genotype–phenotype see Cushing syndrome, developmental lesions, 636 correlations, 619–20 correlations, 607–19 ACTH-dependent embryology, 628, 630 histopathology, 594–611, histopathology, 611–14 dependent ovarian and para- examination techniques, 635–6 614 imaging, 179, 183, 605 ovarian masses, 904–5 gross anatomy, 629–31 macroscopic appearance, macroscopic appearance, ectopic secretion, 32–3 histochemistry and 609–10 608–10 adrenal histopathology, immunohistochemistry, management, 620–1 micronodular, 26, 619 611–13 632–3 cytopathology, 233–4 histopathology, 594–613 bronchial neuroendocrine microscopic anatomy, 630–2 differentiation from macroscopic appearance, tumor, 32, 787 molecular biology, 634–5 carcinoma, 611, 614–17 608–10 gastric tumor, 687 physiology, 635 histopathology, 610–11 nodular, 602, 619 pheochromocytoma, 640 ultrastructure, 633–4 imaging, 179–83, 605–6 histopathology, 613–14 thymic carcinoid, 806 adrenal medullary disease, 636–68 macroscopic appearance, 250, macroscopic appearance, human chorionic ACTH, 875, biochemical testing, 101–2 609–10 608–10 879 adrenal medullary hyperplasia, pathogenesis, 607–8 pathogenesis, 607–8 metastatic pituitary lesions 636–9 adrenocortical carcinoma, 602 treatment and prognosis, 620–1 producing, 370 Beckwith–Wiedeman 18F-FDG PET, 210 adrenocortical nodular disease, plasma syndrome, 636 aldosterone-secreting, 603 602 adrenal insufficiency, 99–100 histopathology, 638 Carney complex, 62–3 adrenocortical proliferations, hypercortisolism, 101, 337 immunohistochemistry, 638 clinical presentation, 28, 605 602–21 production by corticotrophs, macroscopic appearance, 637–8 cortisol-secreting, 25–6, 604, ancillary tools, 617–19 318–19 adrenal metastases, 667–8 614 clinical and biochemical tumors of unknown primary, ancillary tools, 668 cytopathology, 233–4 features, 604–5 1035 cytopathology, 234, 668 differential diagnosis, 611, cytomorphology, 233–4 adrenogenital syndrome, see differential diagnosis, 620, 650 614–17, 620 differential diagnosis, 620 congenital adrenal histopathology, 668 experimental studies, 276 epidemiology, 602–4 hyperplasia imaging, 188, 667 gene expression profiling, 619 genotype–phenotype adrenomedullin, 875, 880 macroscopic appearance, 668 histopathology, 614–17 correlations, 619–20 adrenomedullin-2 (intermedin), adrenal myelolipoma, 596 imaging, 182–4, 605–6 histopathology, 610–14 875, 880 cytological assessment, 233 immunohistochemistry, imaging, 605–7 advanced glycation end- imaging, 186–7 617–19 immunohistochemistry, 617 products, 968 adrenal pseudocysts, 597–9 macroscopic appearance, macroscopic appearance, affinity, antibody, 253 adrenal rest tissue/tumor 609–14 608–10, 609 Aguayo–Miller disease, see ovarian and para-ovarian, 185, molecular pathogenesis, 608 neoplastic, see adrenocortical diffuse idiopathic 903–5 poor and good outcome tumor pulmonary testicular, 185, 592, 614 subgroups, 617–19 non-neoplastic, see neuroendocrine cell adrenal sex steroids sex steroid producing, 604 adrenocortical hyperplasia biochemical testing, 101 treatment and prognosis, 621 hyperplasia AGXT mutations, 766 excess production, 604, 614 Weiss histological criteria, 252 pathogenesis, 607–8 AIP mutations, 9, 65, 357–95 adrenal steroid hormones, adrenocortical disease, 592–621 treatment and prognosis, 620–1 AIRE mutations, 78, 80, 767–8 99–101, 589 biochemical testing, 99–101 adrenocortical tumor, 602–21 AITD, see autoimmune adrenal steroidogenesis cytological assessment, 232–4 cytopathology, 233–4 polyendocrinopathy defects in congenital adrenal hepatic effects, 755–7 differential diagnosis, 620 syndrome hyperplasia, 604, 608, 840 hormone excess syndromes, examination techniques, 591 AJCC, see American Joint mechanisms of disruption, 606 25–8 experimental studies, 276 Committee on Cancer

1045

© in this web service Cambridge University Press www.cambridge.org Cambridge University Press 978-1-107-44331-0 - Endocrine Pathology Edited by Ozgur Mete and Sylvia L. Asa Index More information

Index

Albright hereditary alpha-fetoprotein, 297, 308 neuroendocrine differentiation imaging, 175–6 osteodystrophy, 103, α-subunit, glycoprotein in prostate cancer, 851 immunohistochemistry, 1016–25 hormones, 95, 357 prostate cancer, 848–50 707–8 skin manifestations, 939 alveolar soft part sarcoma, 368 androgen insensitivity syndrome, macroscopic appearance, aldosterone, 589 amenorrhea, hypogonadotropic 840–1 705 biochemical testing, 99 hypogonadism, 2 androgen receptors, 848–9 management, 708–9 control of secretion, 606–7 amenorrhea–galactorrhea castrate-resistant prostate molecular analysis, 708 excess, see aldosteronism pituitary gangliocytoma, 360 cancer, 849–50 prognosis, 708 aldosterone synthase (CYP11B2) prolactinoma, 345 newer agents targeting, 850 appendix, 704–9 immunohistochemistry, American Joint Committee on androgenic alopecia, in anatomy and histology, 617 Cancer (AJCC), hyperprolactinemia, 679–704 aldosterone:renin ratio, plasma, neuroendocrine tumor 932–4, 943 embryology, 704 99, 605 staging system, 679 androgens imaging anatomy, 174 aldosteronism American Thyroid Association adrenal, biochemical testing, arachnoid cysts, 331 (hyperaldosteronism) (ATA) 101 arcuate nucleus, 284–6 familial, 603, 620 MEN2 guidelines, 61 biosynthesis, 840 arginine-vasopressin, see adrenal pathology, 610 risk stratification system, 22, developing testis, 835 antidiuretic hormone clinical presentation, 605 496 inherited defects, 840 Arnold–Chiari malformation, molecular genetics, 607 amiodarone, effects on thyroid, excess, see hyperandrogenism 316, 327 obesity-related 77, 422 osteocalcin-mediated array-based comparative glomerulopathy, 822 amniotic fluid prolactin, 874–9 regulation, 1007–8 genomic hybridization ovarian tumor-associated, 907 amphicrine carcinoma, 682, 694 prostatic action, 848 (CGH), 262 primary, 26–8 amplification refractory skeletal effects, 1009, 1018–9 arteries, histology, 982–3 adrenal venous sampling, mutation system, 264–5 androstenedione, 101, 840 arteriosclerosis, hyaline, 969 606 ampullary neuroendocrine anencephaly, 316 ASCL1, 776 adrenocortical hyperplasia, carcinoma, 692 aneurysms, carotid artery, 331–2 asteatotic eczema, 603 amyloid deposition angiofibroma, facial, 936 hypothyroidism, 956 biochemical testing, 99, 605 endocrine tumor, 253 angiogenesis, 981 astrocytomas clinical presentation, 26–8, medullary thyroid carcinoma, angioinvasion, see vascular anaplastic, 291 604–5 431, 523 invasion intermediate pilocytic/ diagnostic algorithm, 27 FNA samples, 227, 523 angiosarcoma, thyroid, 560–2 pilomyxoid, 294 epidemiology, 602–3 microcarcinoma, 525 angiotensin II pilocytic, 292–300, 365 genotype–phenotype ultrastructure, 526 diabetic nephropathy, 826 pilomyxoid, 292, 294 correlations, 619 pancreatic islets, type 2 obesity-related pineal region, 300–3 histopathology, 610–17 diabetes, 722–3 glomerulopathy, 822 ATA, see American Thyroid management, 620 pituitary, 330 angiotensin receptor blockers, Association pathogenesis, 606–7 amyloid goiter, 431–2 824, 829 atherosclerosis radionuclide imaging, 204 amyloidosis, 431 angiotensin-converting enzyme diabetes mellitus, 826, subtypes, 27 cutaneous lichen, 60, 521, inhibitors, 824, 829 969–70 ultrasound, CT and MRI, 936–7, 946 animal models, 271–2 see hypothyroidism, 963 183 cutaneous macular, 936–7, 946 experimental models atopic dermatitis, autoimmune rare causes, 99 renal, 828 anorchism, 838 thyroid disease, secondary, 99 anabolic steroids anosmin, 328 954–5 ALK mutations, neuroblastoma, bland cholestasis, 761 anti-CD3 antibodies, type 1 ATP1A1 mutations, 607, 619 666–7 peliosis hepatis, 760–2 diabetes, 74 ATP2B3 mutations, 607 ALK rearrangements anaplastic lymphoma kinase, see antidiuretic hormone (ADH), atrial fibrillation, 963–4 thyroiditis-associated papillary ALK biochemical testing, 96 ATRX mutations, pancreatic carcinoma, 445 anaplastic thyroid carcinoma, deficient hypothalamic neuroendocrine tumor, well-differentiated thyroid 500–2 secretion, 14–15, 287–8 733 carcinoma, 464–5, 490 18F-FDG PET, 209–10 inappropriate secretion, see AtT-20 cell line, 273–4 ALK (anaplastic lymphoma clinical presentation, 24, 500 syndrome of atypia (follicular lesion) of kinase) CT and MRI, 154 inappropriate secretion of undetermined immunohistochemistry cytopathology, 216, 227, antidiuretic hormone significance, thyroid, Merkel cell carcinoma, 237 500–23 localization in 20–1, 221 papillary thyroid carcinoma, differential diagnosis, 1031–2 neurohypophysis, 325 autoantibodies 494 familial, 62 anti-pituitary antibodies, 79 Addison disease, 78 alopecia areata, 952–3 genetic alterations, 501 antiretroviral therapy, thyroid diagnostic testing, 92 alopecia, androgenic, in gross examination, 406, autoimmunity and, 77 Hashimoto thyroiditis, hyperprolactinemia, 442–523 aorticopulmonary 401–13 932–4, 943 histopathology, 429, 523–5 paraganglioma, 652–3 hypophysitis, 79, 328–9 alpha radiation, emission, 193 immunohistochemistry, 500–1 APC mutations, 66, 462, 484–5 thyroid disease, 76, 97–8 alpha-1-antitrypsin deficiency, management, 502 appendiceal neuroendocrine to hormone receptors, 88 746–7 ultrasonography, 124 tumor, 704–9 type 1 diabetes, 73 alpha-cells, pancreas, 720–1 androgen deprivation therapy clinical features, 705 autoimmune Addison disease, hyperplasia, 725 effects on prostate, 850 histopathology, 705–7 78–9

1046

© in this web service Cambridge University Press www.cambridge.org Cambridge University Press 978-1-107-44331-0 - Endocrine Pathology Edited by Ozgur Mete and Sylvia L. Asa Index More information

Index

autoimmune hepatitis type 2, 768 gene mutations, see CTNNB1 bone, 992–6 tumor autoimmune hypophysitis, 79 mutations anatomy, 993–4 metastatic, imaging, 145 autoimmune hepatocellular adenoma, androgen regulation, 1007–8 pineal region, see pineal polyendocrinopathy 758, 759 brain function and, 1008 tumor syndrome, 79–80, 767–8 papillary thyroid carcinoma, cortical, 994 primary, 140–1, 291–7 see polyglandular 485, 493–4 decalcification, 996 breast, 858–65 autoimmune syndrome beta-cells, pancreas, 720 embryology, 992–3 development, 858 autoimmune hyperplasia, 724 endocrine function, 1004–8 histology, 858 polyendocrinopathy- type 1 diabetes, 723 examination techniques, 996 neuroendocrine cells, 858 candidiasis-ectodermal type 2 diabetes, 723 extracellular matrix, 995–6 breast carcinoma dystrophy, see ultrastructure, 721 histology, 994–6 male, 865 polyglandular Bethesda System for Reporting hormones acting on, 1009 metastatic extra-mammary, autoimmune syndrome Thyroid Cytopathology, lamellar, 994 865 type 1 221, 406–7 manifestations of endocrine mucinous, type B, 861 autoimmune thyroid disease bilateral (ACTH-independent) disease, 1008–21 pituitary metastases, 368 (AITD) macronodular modeling, 1008 with neuroendocrine autoantibody testing, 97–8 adrenocortical phosphate and vitamin differentiation, see breast CT and MRI, 149 hyperplasia, primary D regulation, 1005–9 neuroendocrine environmental factors, 77–8 clinical presentation, 26 remodeling, 1008 carcinoma experimental models, 275 histopathology, 594–613 trabecular, 994–5 breast mass, ultrasonography, 113 genetic factors, 76–7 imaging, 185 ultrastructure, 996 breast neuroendocrine pathogenesis, 75–8 macroscopic appearance, woven, 994–5 carcinoma, 859–65 ultrasonography, 118–19 608 bone disorders, laboratory apocrine differentiation, 861–3 avidin–biotin complex method, 255 management, 607–21 investigation, 102–4 clinical presentation, 864 avidity, antibody, 253–4 pathogenesis, 607–8 bone Gla protein, see osteocalcin cytopathology, 864 AVP–NP2 mutations, 287 bile canaliculi, 744–5 bone lining cells, 995–6 histogenesis, 865 Axenfeld–Rieger syndrome, 327 bile ducts bone mineral density, 1017 hormone production, 865 Azzopardi phenomenon extrahepatic, 709 glucocorticoid-induced immunohistochemistry, 863 Merkel cell carcinoma, 917 embryology, 709, 744 decline, 1019 invasive poorly differentiated/ pulmonary small cell neuroendocrine tumor, primary hyperparathyroidism, small cell, 859–61 carcinoma, 802 709–11 1010, 1012 invasive well-differentiated, intrahepatic, 744–6 bone tumor/tumor-like lesions 859–61 B-cells, 71 bile transport, 748–9 endocrine disease-associated, mucinous differentiation, 861 obesity-related insulin bilirubin, 749 992–1001 non-invasive, 859 resistance, 74 biochemical testing, 87–105 sellar region, 332 treatment and prognosis, bacterial infections analytical sensitivity, 91 bone–hypothalamic axis, 1006–7 864–5 adrenal, 595 applications, 93–105 bone–pancreas axis, 1005–7 ultrastructure, 864 skin, diabetes mellitus, 929 assay standardization, 90 BPH, see benign prostatic breast tumor, benign, thyroid, 417 choice of specimen, 88–9 hyperplasia neuroendocrine Bannayan–Riley–Ruvalcaba dynamic tests, 90 Brachmann–de Lange syndrome, differentiation, 859 syndrome, 66 inaccuracy or imprecision, 316, 327 BRG1 (ATP-dependent helicase) barium, 110 91 BRAF gene fusions immunostaining, 900, Bartholin glands, 892 interpretative factors, 89–90 pilocytic astrocytoma, 294 906 basophil invasion, posterior diet and medications, pilomyxoid astrocytoma, 294 bromocriptine pituitary, 319, 321 89–90 well-differentiated thyroid effect, lactotroph adenoma, basophils, pituitary, 317 patient related, 89 carcinoma, 464–5 347 BCL-2 specimen collection related, BRAF mutations gonadotroph adenoma, 355 Hashimoto thyroiditis, 414 90 craniopharyngioma, 359 prolactin-secreting adenoma, Merkel cell carcinoma, 920, 924 methods, 90–3 malignant struma ovarii, 411 345, 349 Beckwith–Wiedeman syndrome, biotransformation, hepatic, papillary thyroid carcinoma, bronchi, imaging anatomy, 161–2 66 748 62, 464, 490 bronchial carcinoid, see adrenal cortical involvement, bisphosphonates, 1007, 1018, experimental studies, 274–5 pulmonary carcinoid 593, 599 1020 genotype–phenotype bronchopulmonary dysplasia, 780 hyperplasia of adrenal medulla black thyroid, 423 correlations, 489–90, 494 bronchopulmonary and paraganglia, 636–7 bladder paraganglioma, urinary, immunohistochemistry, neuroendocrine tumor, benign prostatic hyperplasia 650–1 255, 493–4 see pulmonary (BPH), 848 differential diagnosis, 652 pilocytic astrocytoma, 294 neuroendocrine tumor benign tumor, gross pathology, 651 pilomyxoid astrocytoma, 294 brown adipose tissue, 982 examination, 250 Blomstrand chondrodysplasia, BRAF protein, 464 development, 980 beta radiation, emission, 192–3 1017 BRAF-like tumor of thyroid, histology, 982, 984 beta-blockers and osteoporosis, blood specimens, 88–9 489–90, 492–3 ultrastructure, 985 1007 blood vessels, see vasculature brain brown tumor of beta-catenin bolus test, 90 as endocrine organ, 283–309 hyperparathyroidism, adrenocortical carcinoma, bombesin, 1030, 1036 function, osteocalcin and, 1008 996–8, 1010 617–19 bombesin-like peptides, 784 radiological imaging, 131–48 bullosis diabeticorum, 942–4, 954

1047

© in this web service Cambridge University Press www.cambridge.org Cambridge University Press 978-1-107-44331-0 - Endocrine Pathology Edited by Ozgur Mete and Sylvia L. Asa Index More information

Index

bullous skin disorders, ovarian tumor with, 905–7 carcinoid crisis, 787 pathogenesis, 653 autoimmune thyroid parathyroid disease, 24–5, carcinoid heart disease, 33, treatment and prognosis, disease, 955 1010–1 969–71 656–7 hypercalciuria, primary carcinoid plaques, 970–1 CASR mutations, 574, 1009–11 C-cells, thyroid parafollicular, hyperparathyroidism, 1011 carcinoid syndrome, 29, 33–4 CASTLE, see carcinoma showing 400, 516–17 hypocalcemia appendiceal neuroendocrine thymus-like development, 398 autosomal dominant, 1015 tumor, 705 differentiation of thyroid electron microscopy, 401 cardiovascular effects, 965 cutaneous manifestations, 915 castrate-resistant prostate cancer, histochemistry, 401 laboratory investigation, intestinal neuroendocrine 850–6 hyperplasia, see C-cell 102–3 tumor, 696, 700 castration (gonadectomy) cells, hyperplasia management, 1016 laboratory investigation, 104–5 324, 334, 353–4 immunohistochemistry, 401, secondary pulmonary carcinoid, 787, 794 catecholamine cardiomyopathy, 518 hyperparathyroidism, carcinoid tumor, see well- 967–8 morphological features, 400, 517 1012–4 differentiated catecholamines proliferations, 516–28 regulation, 102 neuroendocrine tumor assay methods, 101–2 cabergoline, 349 total serum, 102 carcinoma showing thymus-like excess, pheochromocytoma, CACNA1D mutations, 607, 619 urinary, 102, 1011 differentiation of thyroid 640 café au lait spots, 951 calcium oxalate crystals, in (CASTLE), 547–9 physiology, 635 CAH, see congenital adrenal thyroid tissue, 400, 411 histopathology, 547 placental, 883 hyperplasia calcium sensing receptor, 275 immunohistochemistry, 547–8 synthesis, calcifications autoantibodies, 574, 1015 cardiac myxoma syndrome, see radiopharmaceuticals adrenal, 595–6 inactivating mutations, 574, Carney complex targeting, 204–7 bronchopulmonary carcinoid, 1009, 1011 cardiac myxoma, Carney β-catenin 162 calcium/calmodulin-dependent complex, 63–4, 971, 974 adrenocortical carcinoma, cardiovascular, protein kinase pathway, cardiac paraganglioma, 652–3 617–19 hyperparathyroidism, 965 primary aldosteronism, cardiovascular disease gene mutations, see CTNNB1 craniopharyngioma, 294 606–7 adrenal disorders, 966–7 mutations metastatic, calcium:creatinine clearance diabetes mellitus, 968–9 hepatocellular adenoma, hyperparathyroidism, 936 ratio, 1011 diabetic nephropathy, 825 758, 759 prolactinoma, 346 calibration, 90 parathyroid disorders, 964–6 papillary thyroid carcinoma, thyroid nodules, 121–2 CAM5.2, Merkel cell carcinoma, pheochromocytoma, 967–8 485, 493–4 thyrotroph adenoma, 350 918 pituitary disorders, 961–2 caudal type homeobox 2, see vascular, diabetes mellitus, cAMP/protein kinase A (PKA) thyroid disorders, 962–4 CDX-2 969, 970 pathway cardiovascular system, 959–74 cavernous sinus calcinosis cutis, 936 adrenal Cushing disease, Carney complex, 62–3, 971–4 imaging anatomy, 138 calciopenic rickets/osteomalacia, 606–8, 619 benign thyroid follicular invasion, imaging, 144–5 1013–4 cortisol biosynthesis, 607 epithelial proliferations, C-cell hyperplasia, 516–20 calciphylaxis, 936–8, 946 TSH signaling, 449–50 450 definition, 516 calcitonin, 402 candidiasis cardiac myxoma, 63–4, 971, differential diagnosis, 519–20 excess, clinical presentation, chronic mucocutaneous, 974 histogenesis, 516–17 29, 521 937–8, 948 endocrine manifestations, histopathology, 517–19 medullary thyroid carcinoma, diabetes mellitus, 946 63, 971–4 immunohistochemistry, 518 525–6 capsular drop lesions, diabetic pituitary adenoma, 63, 357 malignant transformation, placental, 875, 880 nephropathy, 826–7 Sertoli cell tumor, 62–3, 843 522, 525 pulmonary neuroendocrine capsular invasion, thyroid thyroid carcinoma, 462–540 management, 520 cell proliferations, 784 carcinoma Carney triad, 59, 648 primary (neoplastic, familial), serum testing, 98–9 reactive changes mimicking, Carney–Stratakis syndrome (or 451–518 wash-out, medullary thyroid 437–9, 441 dyad), 59, 648–9 prophylactic thyroidectomy carcinoma, 124 well-differentiated carcinoma, carotid artery aneurysms, 331–2 specimens, 406 calcitonin gene-related peptide, 468–70 carotid body, 630 secondary (reactive, placental, 876, 880 carbidopa, 207 hyperplasia, 636, 638 physiological), 516, 518 calcitonin-family peptides, carbohydrate metabolism, microscopic anatomy, 632 vs follicular epithelial placental, 880 hepatic, 748 physiology, 635 dysplasia, 446 calcitonin-producing cells, see carbuncle, diabetes mellitus, 946 carotid body paraganglioma, CCND1/PRAD1 (encoding cyclin C cells carcinoembryonic antigen (CEA) 652 D1), parathyroid disease, calcium, 102 jejunoileal neuroendocrine clinical features, 653 574, 581 assays, 102 tumor, 699 cytopathology, 231–2 CD31, 494–562 deficiency, 1014 liver, 747–73 differential diagnosis, 1034–5 CD34, 494 hypercalcemia medullary thyroid carcinoma, familial, 656 hepatocellular adenoma, endocrine causes, 24, 29 526 histopathology, 654 746–62 familial hypocalciuric, tumors of unknown primary, immunohistochemistry, malignant 1009–11 1030–42 645–66 pheochromocytomas/ laboratory investigation, carcinoembryonic antigen- macroscopic appearance, paraganglioma, 661, 663 103–4 related cell adhesion 653–4 MODY3-associated liver of malignancy, 104, 1012 molecule 1, 275 malignant, 664 adenoma, 755–6

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© in this web service Cambridge University Press www.cambridge.org Cambridge University Press 978-1-107-44331-0 - Endocrine Pathology Edited by Ozgur Mete and Sylvia L. Asa Index More information

Index

CD40, autoimmune thyroid children, see pediatric patients immunohistochemistry, 253–9 imaging, 763–4 disease, 77 children’s interstitial lung breast carcinoma, 863 macroscopic appearance, 764 CD56, 253, 257 see neural cell disease, 780 chromaffin cells, 633 management, 765–6 adhesion molecule cholestasis composite pathogenesis, 764–5 CDKN1B mutations, 61–2, 276, bland, 761 pheochromocytoma/ primary biliary, 770 574 neonatal, cystic fibrosis, 769 paraganglioma, 657 prognosis and classification, CDX-2 cholesterol, 87 developing lung, 777 766 gastroenteropancreatic chondrocytes, 992, 994 medullary thyroid clinical presentations, 1–37 neuroendocrine tumor, chondroma, sellar, 368 carcinoma, 526 clomifene stimulation test, 95 680, 694–715 chondromyxoid fibroma, sellar, pancreatic neuroendocrine clonidine suppression test, 101–2 papillary thyroid carcinoma, 368 tumor, 235 collagenoma, truncal, 936 496 chondrosarcoma, sellar, 368 paraganglioma, 654–5 College of American Pathologists tumors of unknown primary, chordoma, sellar, 368 pheochromocytoma, neuroendocrine tumor 1029, 1037 choriocarcinoma 645–58 reporting, 679 CEA, see carcinoembryonic pineal, 135, 308 pulmonary carcinoid, thyroid carcinoma reporting, antigen testis, 837 790–1, 793 571 cecum, imaging, 174 chorion frondosum, 869 pulmonary large cell vascular invasion in thyroid cell cultures, primary, 271 chorion laeve, 869 neuroendocrine carcinoma, 470, 472 cell embracing, chorionic gonadotropin, human, carcinoma, 798 collision tumors pheochromocytoma, 644, 873–4 see human pulmonary neuroendocrine adrenal, see adrenal collision 654 chorionic gonadotropin cells, 778 tumor cell lines, immortalized, 271–3 chorionic (amniotic fluid) pulmonary small cell pituitary adenoma, 356 cellular dissociation prolactin, human, 868–79 carcinoma, 802 colloid, thyroid, 400 adrenal cortical tissue, 233 chorionic thymic carcinoma, 811–12 bubble-gum, chewing-gum or endocrine neoplasm, 216, 218 somatomammotropins, plasma levels, 104, 680 ropey, 222–3 pancreatic neuroendocrine see placental lactogens, chromogranin B, 680 calcium oxalate crystals, 411 tumor, 234–5 human gastrointestinal FNA samples, 222–3 central nervous system (CNS) chorionic thyroid-stimulating neuroendocrine cells, colon hemangioblastoma, von hormone (thyrotropin), 677–8 anatomy and histology, Hippel–Lindau disease, human, 350–1 parasympathetic 679–700 57–65 chorionic villi paraganglioma, 654–5 embryology, 679–99 cerebral salt wasting syndrome, development, 869 chromophobes, pituitary, 317 imaging anatomy, 174–5 287 microscopic and chromosomal aberrations neuroendocrine tumor, see cervical lymph nodes, ultrastructural anatomy, cytogenetics, 261–2 colorectal intraoperative 868–72 jejunoileal neuroendocrine neuroendocrine tumor examination, 249 choristoma tumor, 699 color Doppler ultrasonography, cervical sympathetic pituitary (granular cell molecular diagnostics, 264–8 111 paraganglioma, 650–1 pituicytomas), 363–5 neuroblastoma, 666 colorectal neuroendocrine cervix, uterine sellar, heterotopic parathyroid disease, 574 tumor, 700–4 anatomy, 892 adrenocortical cells, 332 pulmonary neuroendocrine clinical features, 700 large cell neuroendocrine chromaffin cells, 630, 632 tumor, 800, 803 differential diagnosis, 1036 carcinoma, 894 development, 628 well-differentiated thyroid histopathology, 701, 703 neuroendocrine tumor, 894–6 histochemistry and carcinoma, 464–5 imaging, 175, 177, 700 grade 1/carcinoid, 894 immunohistochemistry, chromosome analysis, immunohistochemistry, 701 grade 2/atypical carcinoid, 632–3 conventional, 261 macroscopic appearance, 701 894 molecular biology, 634–5 chronic kidney disease management, 703–4 high grade, 893–6 neuroendocrine tumor, see mineral and bone disorder, molecular analysis, 701–2 small blue cell tumor, 895 pheochromocytoma 1012–3 prognosis, 690–703 small cell neuroendocrine phenotypic plasticity, 634–5 primary hyperoxaluria, 766–7 comet-tail artifact, colloid carcinoma, 893–6 pheochromocytoma cell role of diabetes and obesity, thyroid nodules, 121 Charcot–Bottcher filaments, 843 resembling, 641 821 comparative genomic CHEK2 mutations, 464–7 physiology, 635 secondary hybridization, array- Chelex extraction, 264 ultrastructure, 633–4 hyperparathyroidism, based, 262 chemoreceptors, 635 chromatin patterns 103, 1012–3 computed tomography, 109, Chernobyl disaster (1986), 422 Hashimoto thyroiditis, 415 secondary parathyroid 113–14 see CT cherry angioma, in neuroendocrine cells, hyperplasia, 577 congenital adrenal hyperplasia hyperprolactinemia, 934 216–18 tertiary parathyroid (CAH), 592, 603–4 chief cells papillary thyroid carcinoma, hyperplasia, 578 adrenal rest-associated tumor, extra-adrenal paraganglia, 224–5, 474–6 cirrhosis, 761–6 185, 592, 614, 905 631–2 paraganglioma, 232 clinical features, 761–3 biochemical testing, 100, 605 parathyroid, see parathyroid chromatographic methods, 92–3 cystic fibrosis, 769 clinical presentation, 605 chief cells chromogranin A differential diagnosis, 765 defects in steroidogenesis, Child–Pugh–Turcotte gastrointestinal epidemiology and etiology, 588–604, 608, 840 classification, cirrhosis, neuroendocrine cells, 761 genotype–phenotype 766 677–8 histopathology, 764–5 correlations, 620

1049

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congenital adrenal hyperplasia control of secretion, 606–7 Cushing disease, 11–12 skin manifestations, 948–9 (CAH) (cont.) excess, see hypercortisolism adrenal cortical hyperplasia, subclinical, 620 histopathology, 592, 614 plasma, 3–4, 99–100 594–613 cutis verticis gyrata, 932, 939 imaging, 185, 607 salivary, 100 biochemical testing, 101 CXCR4, 917 lipoid variant, 610, 614 urine free, 100 clinical manifestations, 12 cyclin D1 macroscopic appearance, cotyledon, 871 corticotroph adenoma, 337–40 papillary thyroid carcinoma, 610–20 Cowden syndrome, 66, 461–2 corticotroph hyperplasia, 332 493 management, 608–21 Cowden-like syndrome, 462 diagnosis, 12–13 parathyroid disease, 574, 581 congenital central C-peptide, diagnostic assay, 105 ectopic Cushing syndrome vs, cyclotron, 193 hypoventilation cranial nerve palsies, 1 32–3 CYP11B1 mutations, 608 syndrome, 666–7 craniopharyngioma, 294–6, hyperprolactinemia, 337 CYP11B2–CYP11B1 fusions, 607 Congo red stain, 253 358–60 imaging, 142–3 CYP21 mutations, 592, 608 Conn adenoma, see adamantinomatous, 294, 359 intraoperative consultation, CYP27B1 mutations, 1014 adrenocortical adenoma, associated with pituitary 326–7 cystic fibrosis, 768–70 aldosterone-secreting adenoma, 358 pituitary gangliocytoma, cystic lesions, gross examination, Conn syndrome, see clinical presentation, 358 360–90, 360–90, 360 250 aldosteronism, primary cystic formations, 294, 296 skin manifestations, 934–6 cystic malformation of lung, 780 contrast materials, radiological, imaging, 140, 295, 358–9 Cushing syndrome cytogenetic testing, 261–2 110 malignant, 366 aberrant receptor mediated, cytokeratin 19 (CK19) controls, immunohistochemical, management, 359–60 11, 26 reactive thyroid changes, 440, 256–7 microscopy, 294–5, 359 ACTH-dependent, 12, 604 446 copper stain, liver, 744–7 molecular studies, 359 adrenal pathology, 611–13 well-differentiated thyroid Cornelia de Lange syndrome, papillary, 294–5, 359 biochemical testing, 101, carcinoma, 492–3 316, 327 CREB gene fusions, 464–5 337 cytokeratins (CKs) corpora amylacea, 847 Cre-loxP system, 272 pathogenesis, 607 cutaneous metastatic corticomedullary mixed tumor, cretinism, see hypothyroidism, pituitary pathology, 337–40 neuroendocrine adrenal, 645 congenital adrenal (ACTH-independent), carcinoma, 915 corticosteroids, 589 Crooke cell adenoma, 12, 25–6 gangliocytic paraganglioma, 692 biochemical testing, 99–101 339–40, 355 biochemical testing, 101, liver, 747–57 see also glucocorticoids; Crooke hyaline change of 605 medullary thyroid carcinoma, mineralocorticoids corticotrophs, 320–1 epidemiology, 604 525 corticotroph adenoma, 336–40 cross-reactivity, antibody genotype–phenotype Merkel cell carcinoma, 237, clinical presentation, 12, 14 immunoassays, 92 correlations, 619–20 893, 918, 920 Crooke cell variant, see Crooke immunohistochemistry, 253, histopathology, 611–14 parasympathetic cell adenoma 257 management, 620–1 paraganglioma, 654–5 densely granulated, 338 crown like structures, obesity- pathogenesis, 606–8 prostate, 847–55 imaging, 142–3 related insulin resistance, adrenocortical hyperplasia, pulmonary carcinoid, 791–816 management, 340 74–5 603 pulmonary large cell silent, 7–8, 355 crush injury, pulmonary biochemical testing, 100–1, neuroendocrine sparsely granulated, 338–9 small cell carcinoma, 337, 605 carcinoma, 799 corticotrophs, 318–21 230 cardiovascular effects, 966–7 pulmonary neuroendocrine Crooke hyaline change, 320–1 cryoglobulinemic clinical manifestations, 12–15, cells, 777–8 differentiation, 318, 320 glomerulonephritis, 605 pulmonary small cell effects of HPA axis changes, 828–9 cyclic, 11 carcinoma, 230, 802–3 320–1 cryptorchidism, 835–6, 838 diagnosis, 12–13, 337 somatotroph adenoma, 343 hyperplasia, 332 CT (computed tomography), ectopic, 29, 32–3 tumors of unknown primary, localization, 317–19 abdominal disease, 168–89 medullary thyroid 1033–5, 1038 corticotropic hormones, contrast administration, 114 carcinoma, 521 cytokines, placental leukocytes, placental, 879 enterography, 173–4 ovarian tumor, 907 883 corticotropin, see head-and-neck disease, 131–57 pulmonary carcinoid, cytological assessment, 215–37 adrenocorticotropic hybrid nuclear medicine 787 common patterns, 216–18 hormone imaging, 194–5 thymic carcinoid, 806 exfoliative, see exfoliative corticotropin-releasing hormone, image appearance, 114 epidemiology, 11 cytology 99, 285 multidetector, 113 etiology and classification, FNA, see fine needle aspiration corticotroph hyperplasia, spiral or helical, 113 11–12 intraoperative consultations, 315–32 thoracic disease, 161–7 hepatic changes, 757 244–6 ectopic, 32–3, 286, 611–13 CTLA-4 variants, 72, 77 history and definition, 11 Merkel cell carcinoma, 236–7 hypothalamic secretion, 285–6 CTNNB1 (encoding β-catenin) imaging, 183–5, 606–7 paraganglioma, 231–2 placental, 875–81 mutations intraoperative consultation, parathyroid, 218–20 stimulation test, 100 adrenal cortical proliferations, 247 pulmonary neuroendocrine corticotropin-releasing hormone 63, 608, 620 osteoporosis, 1019–20 tumor, 228–31 binding protein, 875, 879 craniopharyngioma, 359 pituitary-dependent, 11–12, sample processing, 215–17 cortisol, 99, 589 duodenal gastrinoma, 695 337–40, see also Cushing technical considerations, biosynthesis, 604 hepatocellular adenoma, 758, disease 215–16 cardiovascular effects, 966 761 radionuclide imaging, 203–4 thyroid, see thyroid FNA

1050

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cytological atypia, reactive, see type 1 imaging, 165, 782 duodenal neuroendocrine tumor, reactive cytological atypia clinical presentation, 968–9 immunohistochemistry, 783 691–9 cytomegalovirus infections genetics, 71–2 diffuse large B-cell lymphoma, ancillary tools, 694–5 adrenal, 594 glycogen hepatopathy, thyroid, 227–8, 558, 560 clinical features, 31, 692 placental, 884 753–4 diffusion weighted imaging, differential diagnosis, 695, thyroid, 417 immunomodulatory pancreatic 1035–6 cytoplasmic fragility, endocrine therapy, 73–4 neuroendocrine tumor, epidemiology, 691–2 cells, 216, 218 pancreatic histology, 723 170 histopathology, 692–4 cytotrophoblast, 868–9, 871 pathogenesis, 72 DiGeorge syndrome, 408, 574, imaging, 173 cell islands, 869 type 2 965 macroscopic appearance, 692 clinical presentation, 969 dihydrotestosterone, 835–40, molecular analysis, 695 D-cells, somatostatin-producing, immunological basis, 74 848–56 treatment and prognosis, 695–6 677–700 non-alcoholic fatty liver mechanism of action, 848–9 duodenum D2-40 immunohistochemistry, disease, 749–53 dihydroxyphenylalanine anatomy, 690 494–562 pancreatic histology, 722–3 (DOPA), 207 imaging, 173 DAXX mutations, 733 see also maturity-onset 1,25-dihydroxyvitamin D3 neuroendocrine cell de Quervain thyroiditis, see diabetes of young (1,25-dihydroxycalciferol), hyperplasia, 691, 693 subacute thyroiditis diabetic cardiomyopathy, 969 102, 1004–5 dwarfism, pituitary, 316, 328 dehydroepiandrosterone sulfate, diabetic dermopathy, 940 assays, 102 dynorphins, placental, 875, 880 101 diabetic foot ulcers, 946 deficiency, 1012–4 dyslipidemia dehydroepiandrosterone/ diabetic hand syndrome, 940 FGF23-mediated regulation, diabetic nephropathy, 829–30 dehydroepiandro- diabetic microangiopathy, 944, 1005 hypothyroidism, 963 stenedione, 101, 840 946, 969 resistance, 1014 delta-cells, pancreas, 720–1 diabetic nephropathy, 824–30 serum levels, 103 E-cadherin, papillary thyroid denosumab, 1018, 1020 acquired perforating diiodotyrosine, 402 carcinoma, 493–4 dense-core secretory granules dermatosis, 944, 956 DIPNECH, see diffuse idiopathic EC cell, see enterochromaffin cell breast tissue, 864 clinical features, 825 pulmonary ECL cell, see enterochromaffin- chromaffin cells, 633 clinicopathological neuroendocrine cell like cell chromogranins, 677–8 correlations, 828 hyperplasia Echinococcus infection (hydatid islet cells, 721 differential diagnosis, 828–9 disordered sexual differentiation, disease), adrenal, 594–5 medullary thyroid carcinoma, electron microscopy, 828 839–41 eczema craquelé, 526 epidemiology, 825 DMP-1 (dentin matrix protein- hypothyroidism, 956 pheochromocytoma, 645 histopathology, 825–7 1), 1005 EGFR defects pulmonary neuroendocrine immunofluorescence, 827 DNA extraction methods, 263–4 detection by PCR, 261–4 cells, 778 macroscopic appearance, 826 DNA fingerprinting, 266–7 pulmonary neuroendocrine dentin matrix protein-1 (DMP- management, 830 DNA sequencing carcinoma, 800, 804 1), 1005 pathogenesis, 825–6 next generation techniques, egg-shell calcification, thyroid dexamethasone suppression pathological classification, 826 263, 268–9 peri-nodular, 121–2 tests, 100–1 prognosis, 830 pyrosequencing, 265 EGLN1 (PHD2) mutations, 649 long (Liddle test), 101 diabetic peripheral neuropathy, Sanger dideoxy method, EIF1AX mutations, 464 unsuspected 946 265 Eiken syndrome, 1017 pheochromocytoma, diabetic thick skin, 940–2 Doege–Potter syndrome, 985 elastography, 112–13 640 diaphragma sellae, 138, 315–16 dopamine electron capture decay, 192–3 dextran polymers, diaphysis, 993 excess, parasympathetic electron microscopy, 253 immunohistochemistry, DICER1-related familial tumor paraganglioma, 538–52 immunohistochemistry, 256 255 susceptibility syndrome, hypothalamic secretion, 285–6 embryonal carcinoma diabetes insipidus 65 dopamine agonists, 347–9 pineal, 135, 307–8 central, 14–15, 287–300 benign thyroid follicular dopamine beta-hydroxylase, teratoma association, 309 causes, 15–16, 287–300 epithelial proliferations, 633 testicular, 837 lymphocytic hypophysitis, 450 Doppler ultrasonography, embryonic stem cells, 276 329 pituitary blastoma, 360 111–12 emerin immunohistochemistry, secondary, 287–8 Sertoli–Leydig tumor of ovary, DOTA-NOC/TOC/TATE 493 clinical presentation, 15 902 imaging, see empty sella syndrome, 138, 316, diagnosis, 15, 96 thyroid carcinoma, 462 radionuclides 328 familial, 287 DIDMOAD syndrome, 287 see Down syndrome, 768, 886 enchondroma, sellar, 368 skin manifestations, 936 Wolfram syndrome 1 drug-induced effects enchondromatosis, 1017 diabetes mellitus diet, influences on biochemical biochemical tests, 89–90 endobronchial nodules, imaging, cardiovascular effects, 968–9 testing, 89–90 thyroid function, 97 162 laboratory investigations, 969 differentiated thyroid carcinoma, thyroid pathology, 422–3 endochondral ossification, 992–4 long-term complications, 969 see well-differentiated dual energy X-ray endocrine atypia, thyroid management, 969 thyroid carcinoma absorptiometry, 1011–2, follicular epithelial cells, osteocalcin and glucose diffuse idiopathic pulmonary 1017 441, 453 metabolism, 1007 neuroendocrine cell ductal carcinoma of breast, endocrine mucin-producing osteoporosis therapy and, 1007 hyperplasia, 782–4 invasive, 864 sweat gland carcinoma, skin manifestations, 939–47 histopathology, 783 ductus venosus, 744 924, 935

1051

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endodermal sinus (yolk sac) immunohistochemistry, 684 familial adenomatous polyposis, 66 rickets/osteomalacia related to, tumor macroscopic appearance, 683 thyroid carcinoma, 462, 484–5 1014–5 pineal, 135, 308 esophagus, 683–4 familial endocrine tumor tumor producing, 103, 988–90, testicular, 837 anatomy and histology, syndromes, 56–66 1014–5 endolymphatic sac tumor, von 679–83 familial hypocalciuric fibroblast growth factors (FGFs), Hippel–Lindau disease, embryology, 679–83 hypercalcemia, 1009, thyroid cancer 58 imaging anatomy, 170 1011 progression, 275 endometrium, 892 Esp (mouse), 1006–7 familial isolated pituitary fibroblasts, 979–80 neuroendocrine tumor, 896 esthesioneuroblastoma, sellar, adenoma syndrome, 65, tendons and ligaments, 982 β-endorphin, placental, 875, 879 366–7 357 ultrastructure, 985 endorphins, pituitary estradiol, biochemical testing, familial medullary thyroid fibrocytes, 979 corticotrophs, 318 96 carcinoma (FMTC), 60, fibro-hyalinized spindle cell endothelial cells, vascular, see estriol, placental synthesis, 883 647 proliferation, adrenal vascular endothelial cells estrogen receptor, 1036 clinical presentation, 24, gland, 596 energy metabolism estrogen receptor-α 451–522 fibrosarcoma, sellar, 368 bone and, 1005–7 adenohypophysial cells, 318, gross examination, 406 FibroScan (transient hepatic function, 748 336 molecular features, 526 elastography), 763–4 placental neuropeptides prolactin-producing pathogenesis, 516, 522–37 fibrosing disorders, idiopathic, regulating, 880–1 adenoma, 339–47 pathological features, 523–4 418 enhancer of Zeste homolog 2, estrogens familial non-medullary thyroid fibrosing thyroiditis, 415–16, pulmonary biochemical testing, 96 carcinoma (FNMTC), 62, 442 neuroendocrine breast development, 858 461–567 fibrosis carcinoma, 799 deficiency, 1017–9 Fanconi syndrome, 1015 dopamine agonist-treated enigmatic bodies, 318–19 hepatic effects, 757–8 Fas/FasL, Hashimoto thyroiditis, prolactinoma, 347–9 enterochromaffin (EC) cell, 677, placental, 868, 874 414 hepatic, see hepatic fibrosis 684–5 replacement therapy, 1007, fascia, 982 midgut neuroendocrine preneoplastic lesions, 696 1018 fasting test, supervised, 30 tumor, 33–4 neuroendocrine tumor of, skeletal effects, 1009, 1017–9 fat metabolism, see lipid Riedel thyroiditis, 418–25 appendix, 705–7 thyroid cancer and, 463 metabolism fibrous bodies large bowel, 701–2 estrone, biochemical testing, 96 fat tissue, see adipose tissue acidophil stem cell adenoma, small bowel, 696–9 European Neuroendocrine fat, intracytoplasmic 346, 348 stomach, 687 see also Tumor Society (ENETS), parathyroid chief cells, 219–20 somatotroph adenoma, 252, serotonin-producing tumor staging system, thyroid follicular cells, 400 341–3 neuroendocrine tumor 679, 726–7 FDG PET, see positron emission fibrous dysplasia, 998–9 enterochromaffin-like (ECL) everolimus (inhibitor of the tomography; sellar, 332 cells, 677–700 mTOR), 682 radionuclides fibrous thyroiditis, invasive, see dysplasia, 685 exfoliative cytology, 215, 228 FDOPA, see radionuclides Riedel thyroiditis hyperplasia, 685–6 pulmonary neuroendocrine female genital tract, 892–908 fibrous tissue, development, neuroendocrine tumor of, tumor, 229–30 anatomy, 892 979–80 686–7 exocytosis, misplaced, see neuroendocrine tumors of, fine needle aspiration (FNA), genetic abnormalities, misplaced exocytosis 893–9 215–37 688–9 exomphalos, macroglossia, and female hypogonadism, 2 (non-)aspirative technique, prognosis, 690 gigantism syndrome, see cirrhosis of liver, 763 215 type I, 687–8 Beckwith–Wiedeman osteoporosis, 1017–8 adrenal lesions, 232–4 type II, 687–8 syndrome prolactinoma, 8 common cytomorphological type III, 687–8 experimental models, 271–7 FGF, see fibroblast growth factor patterns, 216–18 type IV, 687 animal (in vivo) models 271 FGFR, see fibroblast growth needle size, 215 enteroclysis, 173–4 conditional knockout factor receptor pancreatic neuroendocrine enterography, 173–4 mouse, 272 FGFR2 gene fusions, 464–5 tumor, 234 ependymoma, 300, 365 constitutive knockout FH mutations, 641 paraganglioma of head and epidermoid cysts, suprasellar, mouse, 272 fibrillary glomerulopathy, 829 neck, 231–2 331 genetically modified mouse, fibrin cap lesions, diabetic parathyroid, 218–20 epididymis, 834, 837 272 nephropathy, 826 pulmonary neuroendocrine epinephrine, 101, 635 in vitro models vs, 271–3 fibrinogen, well-differentiated tumor, 229–30 granules secreting, 633–4 xenograft, mouse, 272, 274 thyroid carcinoma, 470, sample processing, 215–17 pheochromocytoma secreting, applications, 272–6 494 technical considerations, 640 in vitro models, 271–3 fibroblast growth factor receptor 215–16 epiphysis, 993 in vivo models vs, 271 (FGFRs) thyroid, see thyroid FNA ERG immunostain, 847–55 methods, 271–2 pituitary tumorigenesis, 358 flow cytometry, adrenal ERK protein, 464–534 exudative lesions, diabetic thyroid cancer progression, lymphoma, 668 eruptive xanthoma, 944, 955 nephropathy, 826 275 fludrocortisone suppression test, 99 esophageal neuroendocrine fibroblast growth factor-23 fluorescence in situ hybridization neoplasm, 683–4 facial changes, Cushing (FGF23), 1004–5 (FISH), 261–2 histopathology, 683–4 syndrome, 948, 950 knockout mice, 275–6 fluoride-18, radioactive decay, imaging, 170–2, 683 fallopian tube, 892 reduced degradation, 1015 192–3

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© in this web service Cambridge University Press www.cambridge.org Cambridge University Press 978-1-107-44331-0 - Endocrine Pathology Edited by Ozgur Mete and Sylvia L. Asa Index More information

Index

fluorodeoxyglucose PET, see intraoperative consultations, reactive thyroid changes, 440, gastrin radionuclides 248 446 ECL hyperplasia and, 685 fluorodihydroxyphenylalanine invasive growth, definition, well-differentiated thyroid excess, see hypergastrinemia (FDOPA), see 467–73 carcinoma, 492–3 plasma, 105, 680 radionuclides minimally invasive, 489 gallbladder, 709 producing gastric tumor, 687 FMS-like tyrosine kinase 1, molecular pathogenesis, 463–5 embryology, 709, 744 gastrinoma soluble (sFlt1), 877, 882 molecular tests, 494–5 neuroendocrine tumor, clinical presentation, 30, 692, FNA, see fine needle aspiration pathogenesis, 461–5 709–11 728 focal and segmental treatment and prognosis, 496 gallium-68 diagnostic algorithm, 32 glomerulosclerosis widely invasive, 489 production, 193 duodenal, 691 (FSGS) folliculostellate cells, radioactive decay, 192–3 histopathology, 692–3 idiopathic, 824 adenohypophysis, 324 see also radionuclides imaging, 173 obesity-related, 822–3 follistatin, placental, 876, 881 gamma camera, 194–5 immunohistochemistry, 694 focal biliary fibrosis, cystic foot ulcers, diabetic, 946 gamma radiation macroscopic appearance, fibrosis, 769–70 formalin fixation, 251 detection, 192–3 692–5 focal nodular hyperplasia (FNH), formalin-fixed, paraffin- emission, 192 molecular studies, 695 liver, 757–60 embedded sections gangliocytic paraganglioma, treatment and prognosis, differential diagnosis, 178 immunohistochemistry, 255 duodenal, 691 695–6 epidemiology, 758 antigen retrieval, 255–6 clinical presentation, 692 duodenal hyperplasia due to, imaging, 758 double and triple staining, differential diagnosis, 695 691 pathological features, 758–9 257–8 histopathology, 692 ECL cell hyperplasia due to, follicle-stimulating hormone staining protocol, 256 immunohistochemistry and 685 (FSH) molecular genetic testing, 263 ultrastructure, 694–5 gastric, 687 biochemical testing, 95 FOXl2 mutations, 900, 902 macroscopic appearance, imaging, 170, 173 fetal production, 835 fragile X syndrome, 838 692–700 laboratory investigation, 105 isolated deficiency, 841 fragility fractures molecular genetics, 695 pancreatic, 726 pituitary adenoma producing, glucocorticoid-induced, prognosis, 696 use of term, 687 see gonadotroph 1019–20 gangliocytoma, hypothalamic, gastrin-producing cells (G cells) adenoma primary hyperparathyroidism, 10, 360–1 hyperplasia pituitary cells secreting, 324 1010 ganglioglioma, hypothalamic, duodenal, 691, 693 follicular cells risk assessment (FRAX), 1018 141, 360 gastric antral, 685 adenohypophysis, 324 free androgen index, 95 ganglioneuroblastoma (GNB), gastrin-releasing peptide, 777, thyroid, see thyroid follicular free hormone hypothesis, 93 664 784 cells free thyroxine index, 97 composite, 645, 657–8 gastritis follicular dendritic cell tumor, frozen sections cytopathology, 665 autoimmune chronic atrophic, thyroid, 566–7 immunohistochemistry, 255 histopathology, 665–6 685, 687 follicular epithelial proliferations intraoperative consultations, imaging, 167 chronic Helicobacter pylori- of thyroid, see thyroid 244–6 macroscopic appearance, associated, 691 follicular epithelial pituitary lesions, 246, 326 665 gastrointestinal mixed proliferations thyroid lesions, 248 prognosis, 667 adenoneuroendocrine follicular lesion (atypia) of FSH, see follicle-stimulating ganglioneuroma (GN), 664 carcinomas, see mixed undetermined hormone composite, 645, 657–8 adenoneuroendocrine significance, thyroid, FTC, see follicular thyroid histopathology, 666 carcinoma 20–1, 221 carcinoma hypothalamic, see gastrointestinal neuroendocrine follicular neoplasms of thyroid, Fukushima Daiichi nuclear gangliocytoma, tumor, 677–711 see thyroid follicular incident (2011), 422 hypothalamic biopsy, 679 neoplasms fungal infections Gardner syndrome, 66 clinical manifestations, 28 follicular thyroid carcinoma adrenal, 594 gas chromatography, 92 cytology, 234–6, 679 (FTC), 460–96 Cushing syndrome, 949, 954 gastric adenocarcinoma, with differentiation, 678–716 classification, 467, 489–90 diabetes mellitus, 946 neuroendocrine grading, 678–9 clinical presentation, 22, 461 thyroid, 417–21 component, 688 imaging, 170–5, 207–8, differential diagnosis, 495–6 furuncle, diabetes mellitus, 946 gastric inhibitory peptide, 677 210–11, 680 environmental factors, 462–3 gastric neuroendocrine immunohistochemistry, 680–8 epidemiology, 460–1 G cells, see gastrin-producing neoplasms, 686–90 laboratory investigation, familial, 62–8, 461–2 cells clinical features, 686–7 104–5, 679–80 genotype–phenotype G protein stimulatory α-subunit epidemiology, 686 macroscopic and correlations, 489–90 (Gαs, GNAS), 449–50 genetic abnormalities, 688–9 histopathological gross examination, 406, mutations, see GNAS histopathology, 687–8 features, 680–2 429–67 mutations imaging, 172–3 management, 682–3 histochemistry, 494 gadolinium-based contrast immunohistochemistry, 688 microscopic examination, 252 histological variants, 489 agents, 110, 116 macroscopic appearance, 687 mixed tumors, 681–2 histopathology, 467–73 galectin-3 management, 689–90 poorly differentiated imaging, 124, 152–4, 403–61 medullary thyroid carcinoma, prognosis, 690 (carcinoma), 678 immunohistochemistry, 525–6 gastric stromal sarcoma, Carney grading, 678–9 490–4 parathyroid tumor, 581 triad, 59 histopathology, 681

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gastrointestinal neuroendocrine GIST, see gastrointestinal stromal glutamine synthetase, gonadal deficiency cells, 324, 334, tumor (cont.) tumor hepatocellular adenoma, 353–4 staging, 679 GLI3 mutations, 289 759–60 gonadal disorders, biochemical synoptic reporting, 679 glial fibrillary acid protein, 293 glycogen hepatopathy, 753–4 testing, 93–6 well-differentiated (carcinoid), glioblastoma, 291, 365 glycogen, hepatic, 746 gonadal dysgenesis, 839 678 glioma, sellar region, 140–1, glypican-3, 747 mixed, 839 grading, 678–9 291–4, 363–5 GM1 gangliosidosis, 596 pure, 839 macroscopic appearance and glomangioma, sellar, 368–9 GN, see ganglioneuroma gonadectomy cells, 324, 334, histopathology, 680–1 glomerular basement membrane GNAS mutations 353–4 gastrointestinal stromal tumor diabetes-related thickening, adrenal cortical proliferations, gonadoblastoma, 839, 899 (GIST), 59 825, 827 607, 620 prolactin-secreting, 907 gastrointestinal tract obesity-related changes, 822 benign thyroid follicular gonadotroph adenoma, 336, endocrine lesions, 677–711 glomerulosclerosis epithelial proliferations, 351–5 neuroendocrine cells, 677–8 diabetic, 826 450 clinical presentation, 6, 351–3 GATA-2, 318 focal and segmental, see focal fibrous dysplasia, 998 diagnosis, 7, 353 GATA-3, 634, 1033 and segmental GH-producing pituitary imaging, 142 G-banding, chromosome, 261 glomerulosclerosis adenoma, 9, 357 management, 355 GCM2, 1033–40 idiopathic nodular, 829 McCune–Albright syndrome, microscopic features, 353–4 gender differences glomus jugulare tumor, see 65 silent, 355 pituitary adenoma, 335–58 jugulotympanic pseudohypoparathyroidism, gonadotrophs, 324 thyroid cancer risk, 463 paraganglioma 1016 differentiation, 318 genetically modified mouse glomus vagale tumor, see vagal pseudopseudohypopara- effects of hormone changes, models, 272 paraganglioma thyroidism, 1016 324, 353–4 genome sequencing, whole, 263, glucagon GNB, see ganglioneuroblastoma hyperplasia, 334 268–9 assay, 105 GnRH, see gonadotropin- localization, 317, 324 germ cell tumor stimulation test, 2 releasing hormone sexual dimorphism during dysgenetic gonads, 839 glucagon-like peptides, 699, 701, goblet cell carcinoid, appendix, development, 324 intracranial, 304–9 705, see also L cell 704–5 gonadotropin-releasing hormone mixed, 307, 309 neuroendocrine tumor histopathology, 705, 707 (GnRH), 285–6 pineal, 134–5, 304–9 glucagonoma, 726 immunohistochemistry, 708 analogs, prostate cancer, 849 suprasellar/hypothalamic, 139, clinical presentation, 29–31, macroscopic appearance, 705 hypothalamic hamartoma, 290 296–7, 367 728 management, 708–9 stimulation test, 95, 353 synchronous pineal and imaging, 170 prognosis, 708 gonadotropins hypothalamic, 296 laboratory investigation, 105 goiter, 424–32 biochemical testing, 95–6 germinomas skin manifestations, 947 adenomatoid, see thyroid deficiency, see bifocal, 306 glucocorticoid-induced follicular nodular disease hypogonadotropic hypothalamic, 139, 297 osteoporosis, 1019–20 amyloid, 431–2 hypogonadism intracranial, 306–7 glucocorticoids, 589 angiosarcoma association, 560 excess, tumor causing, 351–5 pathological features, 306–7 biochemical testing, 99–101 clinical features, 449 pituitary cells secreting, 324 pineal, 134, 306–7 cardiovascular effects, 966 diffuse toxic, 427–536, see also gonads prognosis, 309 excess, see also Cushing Graves disease development, 834 teratoma association, 309 syndrome; dyshormonogenetic, 429–31 disorders of differentiation, gestational trophoblastic disease, hypercortisolism differential diagnosis, 429 839–41 868–87 corticotroph changes, 320–1 histopathology, 430, 441 streak, 839–51 GH, see growth hormone laboratory investigation, endemic, 424–6 gonocytes, 834, 836 GH4 cell line, 274 100–1 clinical features, 425 Gordon-Sweet silver stain, 251 GHRH, see growth hormone- skin manifestations, 948–9 differential diagnosis, 426 GPRC6A (osteocalcin receptor), releasing hormone skeletal effects, 1009, 1019 see epidemiology, 425 1007–8 ghrelin also cortisol imaging, 425 G-protein-coupled receptors, developing lung, 777 glucose metabolism pathogenesis, 425 aberrant, 607 producing cells, 677–91 hepatic function, 748 pathology, 425–6 gradient echo MRI, 116 producing gastric tumor, 682–8 hyperglycemia, 71 Hashimoto thyroiditis, 413 granular cell tumor, pituitary, giant cell granuloma, pituitary, cardiovascular effects, 968 malignant transformation, 363–5 330 diabetic nephropathy, 825, 463–540 granuloma annulare, 940, 951 giant cells 829 multinodular granulomatous diseases, multinucleated, thyroid FNA glycogenic hepatopathy, 753 clinical presentation, 18, 449 parasellar, 146 samples, 223–4 hypoglycemia clonality, 451 granulomatous hypophysitis, 330 tumor, sellar, 368 autoimmune mediated, 30 complex follicular nodular clinical presentation, 15, 330 gigantism, 8, 341, see also insulinoma, 30 disease, 448 histological features, 329–30 acromegaly non-insulinoma gross examination, 451 imaging, 148 clinicopathological pancreatogenous, 724 imaging, 150 see also thyroid granulomatous thyroiditis, 223, correlations, 10 ovarian tumor causing, 907 follicular nodular disease 417–19, see also subacute diagnosis, 341 solitary fibrous tumor sporadic, 426–7 thyroiditis etiology and genetics, 9 causing, 985 goitrogens, dietary, 425 granulosa cell tumor, 899–901 familial, 9–10 osteocalcin and, 1007 gomitoli, 316 adult, 899–900

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© in this web service Cambridge University Press www.cambridge.org Cambridge University Press 978-1-107-44331-0 - Endocrine Pathology Edited by Ozgur Mete and Sylvia L. Asa Index More information

Index

juvenile, 900–1 extrahypothalamic sources, hCG, see human chorionic hepatic fibrosis, see also cirrhosis testis, 844–5 286 gonadotropin cystic fibrosis, 769–70 Graves dermopathy (pretibial hypothalamic secretion, 285–6 head and neck paraganglia, 552, Down syndrome, 768 myxedema), 18–19, 427, metastatic pituitary lesions 628–47, see also non-alcoholic steatohepatitis, 953–5 producing, 370 parasympathetic 752 Graves disease, 427–9 plasma, 341 paraganglia pathogenesis, 764–5 cardiovascular effects, 963–4 somatotroph and head and neck paraganglioma, hepatic metastases, clinical presentation, 18–19, mammosomatotroph 552–5, see also neuroendocrine, 771 427 hyperplasia, 332 parasympathetic imaging, 177 CT and MRI, 149–52 gut microbiota, obesity-related paraganglioma; thyroid interventional radiology, 682 differential diagnosis, 429 insulin resistance, 75 paraganglioma management, 682–3, 771 environmental factors, 77–8, gynecological tract, 892–908 algorithmic approach, 553 microscopic pathology, 770 429 clinical features, 653 hepatic paraganglioma, imaging, epidemiology, 427 hair loss cytopathology, 231–2, 653–4 175–6, 178 experimental models, 275 hyperprolactinemia, 932–4, epidemiology, 652 hepatic sinusoids, 744–5, 747 genetic factors, 77, 429 943 genotype–phenotype hepatic steatosis hepatic changes, 757 hyperthyroidism, 952–3 correlations, 656 cystic fibrosis, 769 malignancy risk, 119, 463 hypothyroidism, 955–6 malignant, 664 histopathology, 750–1 management, 429 HAIR-AN syndrome, 944 head and neck region MODY3-associated adenoma, pathogenesis, 76–7, 427 hamartomas CT and MRI, 131–57 746–55 pathology, 428–42 hypothalamic, see radionuclide imaging, 196–203 progression to steatohepatitis, radionuclide imaging, 197–8 hypothalamic hamartoma tumors of unknown primary, 750 skin manifestations, 952–5 pituitary gland, 332, 360 1031–2 hepatic veins, 744–5 ultrasonography, 119, 121, 427 Hashimoto thyroiditis (chronic ultrasonography, 117–28 hepatitis C, thyroid Graves orbitopathy lymphocytic thyroiditis), heart, 959–61 autoimmunity risk, 77 (ophthalmopathy), 18, 413–16 conducting system, 959–61 hepatitis, autoimmune type 2, 427 atypia-dysplasia-neoplasia embryology, 959 768 CT and MRI, 149 sequence, 442 examination techniques, 961 hepatoadrenal syndrome, 763 histopathology, 428–37 clinical features, 413 gross anatomy, 959–60 hepatoblasts, 744 greater omentum, imaging, 175 CT and MRI, 149 histochemistry and hepatocellular adenoma, 757–60 gross cystic disease fluid protein- cytopathology, 223 immunohistochemistry, epidemiology, 758 15, breast differential diagnosis, 440–1 960 histochemistry and neuroendocrine environmental factors, 77–8 histology, 960 immunohistochemistry, carcinoma, 861–3 experimental models, 275 molecular anatomy, 960 759 gross examination, 250–1 fibrous atrophic variant, 416 physiology, 960–1 histopathology, 758, 760 growth factors fibrous variant, see thyroiditis, ultrastructure, 960 imaging, 758 pituitary tumorigenesis, 358 fibrosing heart valves, 959 macroscopic appearance, 755, placental, 882 follicular epithelial dysplasia, heat-induced epitope retrieval, 758 growth failure, primary 441–6 255 MODY3-associated, 754–5 hyperoxaluria, 767 genetic factors, 77 hemangioblastomas hepatocyte nuclear factor 1-α growth hormone (GH) gross pathology, 414 pituitary, 368 (HNF-1α), 754 biochemical testing, 94–5, histology, 414–15 von Hippel–Lindau disease, mutations, see HNF1A 341 immunohistochemistry, 57–65 mutations deficiency, 2, 328 415–557 hemangiomas hepatocyte paraffin 1, 747 biochemical testing, 5, 95 juvenile variant, 416 adrenal, imaging, 188 hepatocytes cardiovascular effects, 961 lymph node extension, 571 benign cavernous, pituitary, 368 ballooning, non-alcoholic experimental models, 274 lymphoma risk, 118–19, hemangiopericytoma, see solitary steatohepatitis, 751 ectopic secretion, 32 558 fibrous tumor development, 744 excess, syndromes of, see papillary thyroid carcinoma hematological tumor, pituitary glycogen hepatopathy, 753 acromegaly; gigantism arising in, 119, 441, 444, involvement, 367 histology, 745 human pituitary (hGH-N), 463 hemochromatosis immunohistochemistry, 747 873–8 pathogenesis, 75–6, 413–14 liver histochemistry, 747 physiological function, 748–9 human placental (hGH-V), pathological variants, 415–16 pituitary involvement, 330 ultrastructure, 746 873–8 pathology, 414–15 thyroid involvement, 423 hermaphroditism, 839–41 pituitary adenoma producing, reactive cytological atypia, 437, hemorrhage Herring bodies, 285, 317–18, 341–6 440–3 adrenal, see adrenal 325–6 secreting cells, 321–2 ultrasonography, 118 hemorrhage HES1, 316 serum measurement, 10, 94, Hassall corpuscles, 249 gross examination, 250–1 heterophile antibodies, 92 341 Haversian systems, 994 hemosiderosis, transfusion- HEX1 mutations, 288 growth hormone-releasing HBME-1 (anti-mesothelioma associated, 423 HIF2A mutations, 641, 649 hormone–arginine test, 2, antibody) hepatic arterial embolization, high altitude 95 reactive thyroid changes, 440, neuroendocrine carotid body hyperplasia, 638 growth hormone-releasing 446 metastases, 682 carotid paraganglioma, 653 hormone (GHRH), 285 well-differentiated thyroid hepatic artery, 743–5 Hirschsprung disease, 60, 527 ectopic secretion, 11, 32 carcinoma, 492–3 hepatic diverticulum, 743–4 neuroblastoma and, 666–7

1055

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Index

hirsutism ovarian tumor secreting, 907 ectopic, 1012 lactotroph hyperplasia, 334 Cushing syndrome, 948 serum assays, 95 experimental studies, 275–6 ovarian lesions causing, 907 hyperandrogenism, 951 hungry bone syndrome, 1010 familial isolated, 574, 579, pituitary stalk effect, 7, 288 hyperprolactinemia, 934 Hürthle cell carcinoma of 581–2, 1011 prolactinoma, 8, 345–6 histiocytoses, non-Langerhans thyroid, see oncocytic primary (PHPT), 1008–12 skin manifestations, 932–4 cell, 367 thyroid carcinoma biochemical testing, 103, hypertension histiocytosis X, see Langerhans hyalinizing trabecular tumor, 1011 Cushing syndrome, 967 cell histiocytosis thyroid, 453 cardiovascular effects, 965 diabetic nephropathy, 829 histological stains, 251 cytopathology, 226 clinical presentation, 24, hypothyroidism, 963 histoplasmosis, adrenal differential diagnosis, 527 1010–1 parathyroid disease, 964 involvement, 594 histopathology, 482 cytological assessment, pheochromocytoma, 640, 967 HLA haplotype associations hyalinosis lesions, diabetic 218–19 primary aldosteronism, 27, autoimmune Addison disease, nephropathy, 826–7 familial, 1009–11 602 78 hydatid disease, adrenal, 594–5 genetic testing, 1012 hyperthyroid cardiomyopathy, autoimmune thyroid disease, hydatidiform mole, 886–7 imaging, 156–7, 1011–2 963 72–7 5-hydroxyindole acetic acid, management, 576–7, 1012 hyperthyroidism, 17–19 polyglandular autoimmune 104–5, 680 MEN1, 59–60, 1011 cardiovascular effects, 962–4 syndrome type 2, 80 25-hydroxyvitamin D normocalcemic, 1011 clinical presentation, 18–19, 21 type 1 diabetes, 72 (25-hydroxycalciferol) parathyroid adenoma, follicular epithelial HMGA proteins, 358 assays, 102, 1013 578–9 proliferations, 449 HNF1A mutations, 177, 754–73 deficiency, 1014 parathyroid carcinoma, 581 hepatic changes, 757 hobnail cells, papillary thyroid 11 β-hydroxylase deficiency, 100 parathyroid hyperplasia, osteoporosis, 1020 carcinoma, 487 21-hydroxylase deficiency, 592 574–7 ovarian tumor, 907 Hofbauer cells, 872 biochemical testing, 100, 605 pathophysiology, 1008–9 radionuclide imaging, 197–8 Homer Wright rosettes, 666 clinical presentation, 605 prognosis, 577 skeletal manifestations, 1009 homovanillic acid, 101 genotype–phenotype radionuclide imaging, 201 skin manifestations, 952–5 honeycomb Golgi complex, silent correlations, 620 skeletal manifestations, 1010 struma ovarii, 410 corticotroph adenoma, 17-hydroxyprogesterone, serum, secondary, 1012–5 subacute thyroiditis, 417 355 100 biochemical testing, 103 with TSH excess, 350 see also hook effect, 92 hyperaldosteronism, see chronic kidney disease, 103, thyrotoxicosis hyperprolactinemia, 8, 94 aldosteronism 1012–3 hypertrichosis hormone (estrogen) replacement hyperandrogenism radionuclide imaging, 201–3 Cushing syndrome, 948, 952 therapy, 1007, 1018 adrenal scintigraphy, 204 rickets and osteomalacia, hyperprolactinemia, 934 hormones, 87–8 biochemical testing, 101 1013–5 hypoadrenalism, see adrenal amino acid derived, 87 clinical presentation, 28 secondary parathyroid insufficiency free, analysis, 93 hyperprolactinemia, 932–4 hyperplasia, 577–8 hypocalcemia, see calcium polypeptide and protein, 88 skin manifestations, 951 tertiary parathyroid hypoglycemia, see glucose receptors, 88 hypercalcemia, see calcium hyperplasia, 578 metabolism regulation of secretion, 88 hypercalciuria, primary treatment and prognosis, hypogonadism, steroid, see steroid hormones hyperparathyroidism, 578 cirrhosis of liver, 763 stimulation tests, 94 1011 skeletal manifestations, gonadotroph adenoma, 353 tumors of unknown primary, hypercortisolism, see also 1008–15 hypergonadotropic, 841 1035–6 Cushing disease; Cushing skin manifestations, 936–7 hypogonadotropic, see Hounsfield units, 113–14 syndrome tertiary, 104, 1015 hypogonadotropic HPA axis, see hypothalamic– corticotroph changes, 320–1 ultrasonography, 126–7 hypogonadism pituitary–adrenal axis hepatic effects, 757 hyperparathyroidism jaw tumor non-functioning pituitary HRAS mutations, 366, 641 laboratory investigation, syndrome (HP-JT), 574 adenoma, 7 HRPT2 mutations, 574, 576, see 100–1, 605 ossifying fibroma, 998–1001 osteoporosis, 1017–9 also parafibromin primary adrenal, 604, 619–21 parathyroid adenoma, 577–81 prolactinoma, 8 see also female ossifying fibroma, 999–1000 pulmonary neuroendocrine parathyroid carcinoma, 581–3 hypogonadism; male parathyroid adenoma, 581–3 tumor, 32–3 parathyroid hyperplasia, 575 hypogonadism parathyroid carcinoma, hypergastrinemia, 685 primary hyperparathyroidism, hypogonadotropic 582–3 hyperglycemia, 71 see glucose 1011 hypogonadism, 2 human anti-animal antibodies, metabolism hyperpigmentation delayed puberty, 841 92 hyperinsulinemia/ Addison disease, 950, 954 isolated congenital, 288–300, human chorionic gonadotropin hyperinsulinism, Cushing disease, 934–6, 949 328 (hCG), 873–4 cardiovascular effects, 968 Nelson syndrome, 14, 337 anosmic, see Kallmann β-subunit, 297, 307–8, 873 insulinoma, 30 hyperprolactinemia, 288 syndrome breast carcinoma cells, 865 nesidioblastosis, 724 see also assessment of cause, 8–9 normosmic (idiopathic), developing testis, 835 insulin resistance Cushing disease, 337 288, 328 functions in pregnancy, 873, hyperinsulinemic hypoglycemia GH-secreting pituitary hypoparathyroidism, 1015–7 878 of infancy, persistent, 724 adenoma, 341 biochemical testing, 102, 1016 gestational trophoblastic hyperoxaluria, primary, 766–7 hook effect, 8, 94 bone disease, 1015 disease, 887 hyperparathyroidism interpretation of results, 94 cardiovascular effects, 965 hyperglycosylated, 873–91 brown tumor, 996–8 intraoperative consultation, 247 causes, 1015–6

1056

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Index

familial isolated, 574 hypothalamic–pituitary system, ileal neuroendocrine tumor, see infundibular neurohypophysitis, skin manifestations, 937–9 285–6 jejunoileal 329 ultrasonography, 128 adenohypophysis, 285–6 neuroendocrine tumor infundibulum, pituitary, see hypophosphatemic rickets/ disorders, 286–98 ileum, 679–90 pituitary stalk osteomalacia, 1014–5 hormones, 93–4, 285–6 imaging, see radiological imaging inhibins A and B, placental, 876, autosomal dominant, 1005, neurohypophysis, 285 immune system, 71 881 1015 hypothalamic–pituitary–adrenal immunoassays, 91–2 innate immune response, 71 autosomal recessive, 1015 (HPA) axis, 99, 606–7 immunocompromised patients insulin X-linked, 1014 corticotroph responses to Merkel cell carcinoma, bone interactions, 1005–6, hypophysial arteries, 316 changes, 320–1 916–17, 922 1009 hypophysitis, 15–16 hypothalamic–pituitary– pituitary infections, 328 breast development, 858 autoimmune, 79 testicular axis, 841 thyroid infections, 417 cardiovascular effects, 968 classification, 15 development, 835 immunoglobulin G4-related hyperinsulinemia/ clinical diagnosis, 16 hypothalamus, 283–98 disease hyperinsulinism, clinical presentation, 15–16 anatomy, 283–5 pituitary involvement, 15–16, cardiovascular effects, 968 granulomatous, see bone–energy metabolism 79, 330 insulinoma, 30 granulomatous interactions, 1006–7 clinical presentation, 15–16 nesidioblastosis, 724 hypophysitis hormones, 93–4, 285–6 imaging, 16, 148 diagnostic assay, 105 IgG4-related, 15–16, 79, 148, imaging anatomy, 136 thyroid involvement, 416 therapy, skin complications, 330 physiology, 285–6 immunohistochemistry, 253–60 946–7 ipilimumab-induced, 328 hypothyroidism, 16–17 antigen (epitope) retrieval, insulin gene enhancer binding lymphocytic, see lymphocytic cardiovascular effects, 962–4 255–6 protein (ISL-1), 680, hypophysitis central, 3 antigen–antibody interactions, 1032, 1037 necrotizing, 15 cirrhosis-related, 763 253–4 insulin resistance secondary, 328 clinical manifestations, 17, 19 controls and their importance, acanthosis nigricans, 944 xanthomatous, 15, 148, congenital 256–7 immunopathogenesis, 74–5 329–30 dyshormonogenetic goiter, double and triple staining, 257–8 inflammation in non-adipose hypopituitarism, 2–4 429 electron microscopy, 256 tissues, 75 cardiovascular effects, 961 radionuclide imaging, 197 methods, 255 non-alcoholic fatty liver clinical manifestations, skin manifestations, 956 polyclonal and monoclonal disease pathogenesis, 2–4 thyroid aplasia/hypoplasia, antibodies, 254 750–1 experimental models, 274 408 practical applications, 257–60 obesity-related non-functioning adenoma, 7, thyroid dysgenesis, 408 staining protocol, 256 glomerulopathy and, 824 355 ultrasonography, 117 tissue preservation methods, 255 osteoporosis therapy and, 1007 pituitary gangliocytoma, 360 Hashimoto thyroiditis, 413 tumors of unknown primary thyroid cancer risk, 463 skin manifestations, 932 lithium-induced, 422 site, 1029–38 visceral adipose tissue hypothalamic disorders, 286–98 macro-orchidism, 838 immunology of endocrine inflammation, 74–6 biochemical testing, 93–6 prolonged untreated primary disease, 71–80 insulin tolerance test developmental malformations, thyrotroph adenoma, 350 immunotactoid glomerulopathy, adrenal insufficiency, 3–4, 100 288–90 thyrotroph changes, 323–4, 829 GH deficiency, 2, 95 functional, 286–8 350 implantation, embryo, 868 insulin-like growth factor- imaging, 136–48 thyrotroph hyperplasia, 334 impressio suprarenalis, 588 binding protein 3, 95 inflammatory and infectious, skin manifestations, 955–6 indium-111, see also insulin-like growth factor-1 290–1 somatotroph cell changes, 321 pentetreotide; (IGF-1), plasma, 10, 94–5 neoplastic, see hypothalamic subacute thyroiditis, 417 radionuclides radioactive insulin-like growth factor-2 tumors thyrotroph cell changes, 323–4 decay (IGF-2) obesity-related insulin hypoxia infections adrenocortical carcinoma, resistance, 75 carotid paraganglioma, 653 adrenal, 189, 594–5 617–18 hypothalamic hamartoma, hyperplasia of extra-adrenal hypothalamic-pituitary region, solitary fibrous tumor, 985 289–90 paraganglia, 636 290, 328 insulin-like proteins (INSL), 837 histopathology, 289 pulmonary neuroendocrine skin, see skin infections insulinoma, 726 imaging, 138 cell hyperplasia, 780 thyroid, 416–17 clinical presentation, 29–31, pedunculate, 289 hypoxia-inducible factors, 56, inferior petrosal sinus sampling, 728 precocious puberty, 286, 465 337 histopathology, 722–8 289 infertility, male, 841 imaging, 169 sessile, 289 I cells, duodenum, 677 inflammatory bowel disease, 700 laboratory investigation, 105 hypothalamic tumors, 291–8 ichthyosis, acquired, inflammatory cells prognosis, 736 clinical presentation, 291 hypothyroidism, 956 insulitis, 723 insulitis, type 1 diabetes, 72, 723 craniopharyngioma, see IGF-1, see insulin-like growth thyroid FNA samples, 223 interferon-α, thyroid craniopharyngioma factor-1 inflammatory lesions autoimmunity risk, 77 germ cell tumor, 296–7 IgG4-related disease, see hypothalamus, 290–1 interferon, gastrointestinal glioma, 140–1, 291–4 immunoglobulin pituitary, 328–30 neuroendocrine tumor, imaging, 139–41 G4-related disease thyroid, see thyroiditis 682 Langerhans cell histiocytosis, IGSF1 syndrome, 274 inflammatory pseudotumor, intermedin (adrenomedullin-2), 146, 297–8 Ikaros, 273–4, 316, 358 sellar/parasellar, 330 875, 880

1057

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International Neuroblastoma thyroid imaging, 196 composite lanreotide, acromegaly, 345 Pathology Classification whole body scanning, 197–9 pheochromocytomas/ large bowel, 699–704 (INPC), 665 iodine-124PET, thyroid cancer, paraganglioma, 658 anatomy and histology, intersex conditions, 839–41 196, 198 gastrointestinal 679–700 interventional radiology, liver iodine-131 neuroendocrine tumor, embryology, 699 metastases, 682 radioactive decay, 192 678–9 imaging, 174–5 intervillous space, 868–71 thyroid imaging, 196 pancreatic neuroendocrine neuroendocrine cells, 700 intranuclear pseudoinclusions whole body scanning, 197–200 tumor, 236, 726, 731, 736 neuroendocrine tumor, see artefactual, 475 iodine-based contrast agents, parathyroid tumor, 581, 583 colorectal diagnostic value, 253 110, 114 pheochromocytomas/ neuroendocrine tumor papillary thyroid carcinoma, CT of thyroid, 148 paraganglioma, 661 large cell carcinoma with 224, 474–5 ionizing radiation, 109 pituitary tumor, 251, 335–6 neuroendocrine paraganglioma, 232 ipilimumab-induced pulmonary carcinoid, 220–9, differentiation, intraoperative consultations, hypophysitis, 328 791–808 pulmonary, 797 244–9 iron deposits pulmonary small cell large cell carcinoma with indications, 244 liver, 747 carcinoma, 230 neuroendocrine methods, 244–6 thyroid, 423 well-differentiated thyroid morphology, pulmonary, pituitary disorders, 246–7, islet cell, 680, 1032, 1037 carcinoma, 494 797–801 326–7 dysplasia, 725 kidney large cell neuroendocrine practical applications, 246–9 hyperplasia, 724–5 endocrine disease and, 821–30 carcinoma pulmonary carcinoid, 789 islets of Langerhans vitamin D metabolism, 1004–5 endometrium, 896 quality assurance, 244 histochemistry and kidney stones gallbladder and extra-hepatic intrathyroidal thymoma, see immunohistochemistry, primary hyperoxaluria, 763–6 bile ducts, 709–10 carcinoma showing 720 primary hyperparathyroidism, large bowel, 701 thymus-like histology, 720–2 1010, 1012 lung, 797–801 differentiation of thyroid ultrastructure, 721 KIF1B mutations, 649 combined, 805 intratubular germ cell neoplasia, isobaric transitions, 192–3 Kimmelstiel–Wilson lesions, cytopathology, 231, 798 837–9 isolated familial diabetic nephropathy, differential diagnosis, 800–1 invasive growth somatotropinoma, 357 825–6 histopathology, 786, adrenocortical carcinoma, isomeric transitions, 192 Kleiner–Brunt staging, non- 798–800 614–15 alcoholic steatohepatitis, imaging, 164, 797 gross appearances, 250 jejunoileal neuroendocrine 752 immunohistochemistry, thyroid carcinoma, 467–73 tumor, 696–9 Klotho, 801, 1005, 1015 792, 798–800, 804 encapsulated nodules, clinical features, 696–7 Kupffer cells, 745, 749 molecular genetics, 800 468–70 histopathology, 697–9 treatment and prognosis, extrathyroidal extension, immunohistochemistry, 699 L cells, 677 801 470–3 macroscopic appearance, neuroendocrine tumor ovarian, 898–9 lymphatic invasion, 470–2 697–8 appendix, 705, 707 prostate, 852 perineural invasion, 470 molecular genetics, 699 large bowel, 701 small bowel, 692 reactive changes mimicking, treatment and prognosis, 699 labeled streptavidin method, thymus, 809–10 437–8 jejunum, 690 255 histopathology, 810 unencapsulated nodules, Jellinek sign, 936 lactotroph adenoma, 336, 346–50, immunohistochemistry, 469–70 Johnsen score, testicular biopsy, see also prolactinoma 811–14 vascular invasion, 469–98 842–3 densely granulated, 346 uterine cervix, 894 iodine, 402 jugulotympanic paraganglioma, dopamine agonist effects, vagina, 893–4 autoimmune thyroid disease 652 347–9 Larmor precession, 114 and, 76–7 clinical features, 653 management, 349–50 laryngeal paraganglia, inferior, deficiency, 424–6, 449 cytopathology, 231–2 morphological features, 346 552 high dietary intake, thyroid malignancy, 664 oncocytic variant, see acidophil laryngeal paraganglioma, 652–64 cancer risk, 463 stem cell adenoma latent autoimmune diabetes in organification defects, 197, K cells, small bowel, 677 silent, 355 adults (LADA), 72 430–536 Kallmann syndrome, 288–300, sparsely granulated, 339–47 Leigh syndrome, 59, 649 thyroid hormone synthesis, 328 lactotrophs, 317, 321–2 leiomyoma, thyroid, 562–4 401–2 see also radioactive karyotyping, 261 differentiation, 318, 322 leiomyosarcoma, thyroid, 562–4 iodine KCNJ5 mutations, 607, 619 hyperplasia, 322, 334 leptin iodine isotope whole body Kenny–Caffey syndrome, idiopathic hyperplasia, 334 bone interactions, 1006–7 scanning 574–85 LAMB, see Carney complex placental, 876, 880 radiopharmaceuticals, 196 keratin lamin B, 493 leukemia, pituitary involvement, struma ovarii, 201 aggresomes, cytoplasmic, 252 Langerhans cell histiocytosis, 367 thyroid cancer, 197–201 wet, 294, 296, 359 297–8, 367 Leydig cells follow up, 199–200 keratins, see cytokeratins endocrine presentations, 297 development, 835 post-therapy, 199–200 Ki-67 (MIB-1) proliferation imaging, 146, 297 hyperplasia, congenital, 838 pretherapy, 198–9 index, 259 pathological diagnosis, 297 inherited/congenital defects, iodine-123 adrenocortical carcinoma, skin manifestations, 936, 840 radioactive decay, 192 617–19 944–5 normal testis, 836–7

1058

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osteocalcin receptors, 1007–8 pregnant women, 757 magnetic resonance imaging, Meckel diverticulum, tumor, 844–5 systemic diseases causing, 110, 114–16 see MRI neuroendocrine tumor, immunohistochemistry, 767 magnocellular neurons, 285 695–7 837, 844 liver fatty acid-binding protein, male breast carcinoma, 865 median eminence, 136, 285–6 ovarian, 903 754–5, 759 male genitourinary system, mediastinal neuroendocrine LH, see luteinizing hormone liver transplantation, 755, 766 834–52 lesions, 805–12 lichen amyloidosis, cutaneous, LKB1 (STK11) mutations, 66 development, 835 examination techniques, 60, 521, 936–7, 946 long bones, 993 embryology, 834–6 779–80 lichen planus, oral, 944–6, 956 long-acting thyroid stimulator, male hypogonadism, 2, 4 synoptic reporting, 813–14 Liddle test, 101 97–8 cirrhosis of liver, 763 medications, effects of, see drug- Li-Fraumeni syndrome, 66 LTK gene fusions, 464–5 delayed puberty, 841 induced effects ligaments, 979, 982 lung tumors, see specific osteoporosis, 1018–9 medullary thyroid carcinoma limit of detection, 91 pulmonary tumors prolactinoma, 8 (MTC), 520–8 lingual thyroid, 409 luteinizing hormone (LH) male infertility, 841 amyloid goiter, 431 lipid metabolism, 748 biochemical testing, 95 male pseudohermaphroditism, calcitonin monitoring, 98–9 diabetes mellitus, 968 fetal production, 835 839–41 clinical presentation, 24, 521–2 non-alcoholic fatty liver isolated deficiency, 841 dysgenetic, 839 CT and MRI, 154 disease, 750 pituitary adenoma producing, malignant tumors, gross cytopathology, 226–7, 523 thyroid disease, 963 see gonadotroph examination, 250 differential diagnosis, 495, 527, lipid-lowering therapy, diabetic adenoma MALT, see mucosa-associated 1030, 1035 nephropathy, 829–30 pituitary cells secreting, 324 lymphoid tissue epidemiology, 521 lipoadenoma luteoma, pregnancy, 904 mammary gland, 858–65 familial, see familial medullary parathyroid, 576, 580–1 lymph nodes mammosomatotrophs, 317, thyroid carcinoma thyroid, 453 extension of thyroiditis to, 571 322–5 genotype–phenotype lipoatrophy, diabetes mellitus, 946 normal-appearing thyroid differentiation, 318 correlations, 503–26 lipofuscin deposition, thyroid, tissue in, 409 hyperplasia, 10, 332 gross examination, 406, 423 metastases to 249 adenoma 332–3 442–522 lipohyperplasia, parathyroid, 576 intraoperative consultations, clinical presentation, 10 histopathology, 523–4 lipomas 249 imaging, 142 immunohistochemistry, 525–6 MEN1-associated, 936 thyroid cancer, 405, MANECs, see mixed intraoperative consultations, sellar, 368 470–571 adenoneuroendocrine 248 lipotropin (lipotropic hormone), lymphatic invasion, thyroid carcinoma management, 528 318 carcinoma, 470–2 MANETs, see mixed MEN2-associated, 60 liquid chromatography, 92–3 lymphocytic hypophysitis, 329 adenoneuroendocrine clinical presentation, 521–2 liquid chromatography–tandem associated with tumor epidemiology, 521 mass spectrometry, 93 craniopharyngioma, 358 MAPK (mitogen-activated management, 61 lithium clinical presentation, 15 protein kinase) signaling pathogenesis, 522 parathyroid effects, 1008–9 imaging, 146 pathway pathogenesis, 522 thyroid effects, 422 immunopathogenesis, 79 pilocytic astrocytoma, 294 precursor lesions, 516, 522, liver, 743–71 pathological features, 328–30 well-differentiated thyroid 525 cirrhosis, see cirrhosis posterior lobe/infundibular carcinoma, 62, 464 prognosis and predictive embryology, 743–4 involvement, 290, 329 Marfan syndrome, thyroid factors, 528 endocrine diseases manifesting lymphoma carcinoma, 462, 484, radionuclide imaging, 208–9 in, 749–57 adrenal, 188, 668 490 sporadic endocrine function, 743 hypercalcemia related to, 104 Martius Scarlet Blue clinical presentation, 24, 521 gross anatomy, 745 pituitary, 367 histochemistry, well- distinguishing pathological histochemistry, 746–7 thyroid, see thyroid lymphoma differentiated thyroid features, 523 histology, 745–6 lymphovascular invasion, carcinoma, 470 molecular genetics, 526–7 imaging anatomy, 175 thyroid carcinoma, 470 maturity-onset diabetes of young ultrasonography, 124–5, 522 immunohistochemistry, 747–8 Lynch syndrome, adrenocortical type 3 (MODY3) 754–5 ultrastructure, 526 inflammation carcinoma, 619 imaging, 177–8, 755 medullary thyroid non-alcoholic fatty liver liver adenomatosis, 754–5 microcarcinoma, 524–5 disease, 751 M cells, small bowel, 677 pathology, 755–6 familial, 525 obesity-related insulin macrocalcifications, malignant Mauriac syndrome, 753 histopathology, 524–5 resistance, 75 thyroid nodules, 122 MAX mutations, 59, 646, 649 macroscopic appearance, metabolic function, 748 macro-orchidism, 838 McCune–Albright syndrome 522 molecular anatomy, 744 macrophages benign thyroid follicular vs C-cell hyperplasia, 519 normal, 743–9 obesity-related insulin epithelial proliferations, megacolon, congenital, 60 physiology, 748–9 resistance, 74–5 450 melanocyte-stimulating liver adenoma, see hepatocellular placental, 872 fibrous dysplasia, 332, 998 hormone, 318 adenoma walls of cystic thyroid nodules, pituitary involvement, 65, overproduction, 337 liver biopsy, 765 437, 440 332 melanoma liver disease macroprolactin, 94 thyroid carcinoma, 462 metastatic to thyroid, 570–1 manifesting as macular amyloidosis, cutaneous, MDV-3100, prostate cancer, sellar, 370 endocrinopathy, 761–7 936–7, 946 850–7 melatonin, 299

1059

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Index

membranoproliferative metastatic calcification, lactotroph adenoma, 346 methods, 264–8 glomerulonephritis, 828 hyperparathyroidism, prolactin-secreting cells, 322 slides, stained with hematoxylin membranous ossification, 936 mitochondrial DNA, thyroid and eosin (H&E), 263 992–4 metastatic disease carcinoma pathogenesis, specimen requirements, 263 men adrenal, see adrenal metastases 465 thyroid FNA samples, 20, 228 cirrhosis-related changes, 763 cutaneous neuroendocrine mitosis–karyorrhexis index), monoclonal antibodies, 254–5 delayed puberty, 841 carcinoma, 915 neuroblastoma, 666 monoclonal immunoglobulin gonadotroph adenoma, 351 gross examination, 251 mitogen-activated protein kinase, deposition disease, 828–9 hypogonadism, see male hepatic neuroendocrine, see see MAPK monoiodotyrosine, 402 hypogonadism hepatic metastases, mitotane, 621 morphology, 250–3 prolactinoma, 8, 345 see also neuroendocrine mitotic activity, 259 electron microscopy, 253 male parasellar region, 145 adrenocortical carcinoma, gross examination, 250–1 MEN, see multiple endocrine pineal gland, 135–6 594–615, 617–19 microscopic examination, neoplasia pituitary, see pituitary gastrointestinal 251–3 menin, 60 metastases neuroendocrine tumor, MR enterography, 173–4 meningiomas placental, 884, 886 678 PET integration (PET/MRI), pineal region, 300 thyroid, see thyroid metastases hypothalamic glioma, 293 195–6 sellar region, 365 metastatic tumors of unknown pancreatic neuroendocrine MRI (magnetic resonance meningitis, hypothalamic– primary site, 1028–38 tumor, 236, 726 imaging) 116 pituitary dysfunction, hormones and hormone parathyroid disease, 575, 583 abdominal disease, 168–89 290–1 receptors, 1035–6 pheochromocytoma, 644 advantages and disadvantages, meningoencephalocele, 332 key points, 1037–8 poorly differentiated thyroid 114 Merkel cells, 914 structural markers, 1033–5 carcinoma, 497–8 contrast agents, 110, 116 immunohistochemistry, 914 transcription factors, 1029–33 pulmonary carcinoid, 229, 795 head-and-neck region, 131–57 inflammatory and neoplastic work up, 1036–7 pulmonary large cell image appearance, 116 disorders of skin, 915 methionine-encephalin, neuroendocrine pulse sequences, 116 physiology, 914–15 placental, 875–80 carcinoma, 231, 798–9 thoracic disease, 161–7 carcinoma, 915–24 methoxyisobutylisonitrile pulmonary small cell tissue contrast, 114–15 clinical features, 916 (99mTc-MIBI) carcinoma, 230, 802 MTC, see medullary thyroid cytopathology, 236–7, 917 scintigraphy, 201–3 Sertoli–Leydig tumor, 902 carcinoma differential diagnosis, 920–3, O6-methylguanine DNA mitral valve prolapse syndrome, mucosa-associated lymphoid 933, 1034, 1038 methyltransferase, 963–4 tissue (MALT) epidemiology, 916 predicting response to mixed tumors, 681–2 lymphoma, 560 histopathology, 917–18, 923 therapy, 260 adenoneuroendocrine thyroid, 228, 558–9 immunohistochemistry, metyrapone stimulation test, carcinoma (MANECs), mucosal endocrine complex, 237, 918, 925 100 681–3 appendiceal, 679–704 management, 922 MIB-1, see Ki-67 esophagus, 683–4 Müllerian duct syndrome, pathogenesis, 916 mIBG, see radionuclides; gallbladder and extra- persistent, 840 prognostic factors, 922, 934 metaiodobenzylguanidine hepatic bile ducts, 709–10 Müllerian ducts, 835 synoptic reporting, 924 microcalcifications, malignant high-grade malignant, 681 Müllerian inhibiting substance, ultrastructure, 920 thyroid nodules, 122 intermediate-grade 834–5 vulva, 893 micronodular adrenocortical malignant, 681–2 multilobular biliary fibrosis, Merkel cell polyomavirus disease, 613 large bowel, 688–703 cystic fibrosis, 769 (MCPyV), 236, 915–17 micronucleoli, papillary thyroid pancreas, 726 multiple endocrine neoplasia histopathological effects, 918 carcinoma, 224–5, 474, small bowel, 692 (MEN) 59–60 immunostaining, 920 476 stomach, 688–9 multiple endocrine neoplasia mesangial expansion, diabetic micro-orchidism, 838 adenoneuroendocrine tumor type 1 (MEN1), nephropathy, 825–6 microRNA (MANETs), clinical presentation, 26–30, mesenchymal tumor papillary thyroid carcinoma, gastrointestinal, 681–2 59–60 phosphaturic, 103, 987–8 465, 494 gonadal dysgenesis, 839 acromegaly/gigantism, 9 sellar region, 367 pheochromocytoma, 661 poorly cohesive carcinoma- defects, 60 mesentery microsatellite instability assay, neuroendocrine tumor, duodenal gastrinoma, 691, 695 imaging anatomy, 173 265–6 gastrointestinal, 682 duodenal neuroendocrine cell neuroendocrine tumor, microscopic examination, 251–3 sex-cord stromal tumor, testis, hyperplasia, 691, 693 imaging, 174 unique features of endocrine 845 duodenal neuroendocrine MET fusions, 464–5 tumors, 252–3 somatotroph-lactotroph tumor, 695 metabolic syndrome, 749 middle ear adenoma, adenoma, 344–67 experimental models, 276 metaiodobenzylguanidine neuroendocrine, 1036 MMR mutations, microsatellite gastric ECL cell hyperplasia, imaging, 203–7, see mineralocorticoids, 99, 589, see instability assay, 265–6 685 radionuclides also aldosterone model for end stage liver disease gastric neuroendocrine tumor, metanephrines minocycline thyroid disease, 419, (MELD), 766 688–9 assays, 101 423 MODY3, see maturity-onset pancreatic neuroendocrine plasma free, 37, 101–2 misplaced exocytosis diabetes of young type 3 tumor, 733 urinary, 37, 101–2 acidophil stem cell adenoma, molecular genetic testing, 262–9 parathyroid adenoma, 579 metaphysis, 993 346 DNA/RNA extraction, 263–4 parathyroid disease, 573

1060

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Index

parathyroid hyperplasia, MYCN amplification, nephrocalcinosis, gallbladder and extrahepatic 575–6 neuroblastoma, 666 hyperparathyroidism, bile ducts, 709–11 pituitary adenoma, 60, 357 mycobacterial infections, see also 1010 gastrointestinal tract, 678 primary hyperparathyroidism, tuberculosis nesidioblastosis, 722–4 grading, 678–9 59–60, 1011 adrenal, 595 NESP55 (neuroendocrine histopathology, 681 pulmonary carcinoid, 787, 791 thyroid, 417 secretory protein 55), large bowel, 700–1 pulmonary large cell mycotic infections, see fungal 1034, 1037 histopathology, 701 neuroendocrine infections neural cell adhesion molecule immunohistochemistry, carcinoma, 799 myelolipoma, adrenal, see (NCAM; CD56), 701 skin manifestations, 936, 951 adrenal myelolipoma breast carcinoma, 863 prognosis, 703 thymic carcinoid, 806 myeloma, pituitary involvement, low specificity, 731–9, 813 large cell, see large cell multiple endocrine neoplasia 367 pulmonary large cell neuroendocrine type 2 (MEN2), 60–1 myocardium, 960 neuroendocrine carcinoma adrenal medullary hyperplasia, molecular anatomy, 960 carcinoma, 798, 802 lung (high grade), 797–805 636–9 myoepithelial cells, breast, 858 pulmonary small cell as diagnostic term, 800, 805 clinical presentation, 34–5, 60 myofibroblasts, 979, 985 carcinoma, 230, 802 combined tumor, 805 experimental models, 276 myxedema small cell neuroendocrine ovarian, 897–9 medullary thyroid carcinoma, generalized, 955–6 carcinoma of cervix, 895 pancreas, 726–35 60 idiopathic, 416 neural crest cells, 628, 634 genetic changes, 733–41 clinical presentation, pretibial, 18–19, 427, 953–5 neurilemmoma, see schwannoma histopathology, 731 406–521 myxedema coma, 17 neurinoma, see schwannoma prognosis, 734–41 epidemiology, 521 neuroblastic tumor, 636–67 pituitary metastases, 370 management, 61 N cells, small bowel, 677 CT and MRI, 167 prostate, 852 pathogenesis, 522–37 NAB2–STAT6 fusion, 985–6 histopathology, 665–6 proximal small bowel, 692 pheochromocytoma, 641, nail changes, hyperthyroidism, synoptic reporting, 668, clinical presentation, 692 647 953 see also histopathology, 692–4 histopathology, 644 naked nuclei, see nuclear ganglioneuroblastoma; immunohistochemistry, 695 molecular diagnostics, 646 stripping ganglioneuroma; prognosis, 696 prophylactic thyroidectomy, NAME, see Carney complex neuroblastoma skin 528 NB, see neuroblastoma neuroblastoma (NB), 664–7 metastatic, 915 type 2A (MEN2A), 60, 521 NB84, neuroblastoma, 666 ancillary tools, 666 primary, see Merkel cell clinical presentation, 521–2 NCAM, see neural cell adhesion biochemical testing, 102 carcinoma parathyroid disease, 573–4 molecule clinical features, 664–5 small cell, see small cell parathyroid hyperplasia, Nebenkern formations, 346 composite, 657–8 neuroendocrine 575–6 NEC, see neuroendocrine congenital, 664–5 carcinoma pheochromocytoma, 642, carcinoma cytopathology, 665 stomach, 686–7, 690 646–7 necrobiosis lipoidica, 940, differential diagnosis, 667 genetic abnormalities, 689 primary 948 genotype–phenotype histopathology, 688 hyperparathyroidism, necrolytic migratory erythema, correlations, 666–7 macroscopic appearance, 1011 30–1, 947 histopathology, 665–6 687 skin manifestations, 936–7, necrosis imaging, 167, 185–6, 208 thymus, 809–12 951 adrenocortical carcinoma, macroscopic appearance, 665 thyroid metastases, 520–7, type 2B (MEN2B), 60, 647 614–15 management, 667 570–1 clinical presentation, anaplastic thyroid carcinoma, placental, 868–86 vagina, 893–4 406–522 501–61 prognosis, 667 neuroendocrine cell hyperplasia RET mutations, 526 atypical pulmonary carcinoid, sellar, 366–7 of infancy, pulmonary, skin manifestations, 794–5 synoptic reporting, 668 780 951–2 gross examination, 250–1 neurocytoma, central, 361–3 neuroendocrine cells, 257 multiple endocrine neoplasia poorly differentiated thyroid atypical, 362 adrenal medulla, see type 4 (MEN4), 61–2 carcinoma, 497–8 NeuroD, 776 chromaffin cells experimental models, 276 pulmonary large cell neuroendocrine carcinoma appendix, 679–704 parathyroid disease, 574 neuroendocrine (NEC) breast tissue, 858 pituitary adenoma, 357 carcinoma, 798 appendix, 705, 708 extra-adrenal paraganglia, multiplex ligation-dependent pulmonary small cell breast, see breast 631–4 probe amplification, 265 carcinoma, 802 neuroendocrine gallbladder, 709 muscle biopsy, 985 negative controls, carcinoma gastrointestinal tract, 677–8 muscle fibers, skeletal, 981 immunohistochemistry, differential diagnosis, 1029, immunohistochemistry, 257–8 histology, 982 257 1034, 1037–8 large bowel, 679–700 ultrastructure, 983–5 Nelson syndrome, 12–14, 337 endometrium, 896 lung, see pulmonary muscle, skeletal, see skeletal adrenal rest-associated tumor, esophagus, 683 neuroendocrine cells muscle 904–5 histopathology, 684 prostate, 847 mutations neonates imaging, 171 prostatic adenocarcinoma immunohistochemical adrenal cortex, 589 immunohistochemistry, 684 with, 851–2 detection, 259–60 biochemical testing, 89 macroscopic appearance, 683 skin, see Merkel cells molecular detection, 264–9 pituitary gland imaging, 138 prognosis, 684 small bowel, 677, 691

1061

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neuroendocrine cells (cont.) neuroepithelial bodies, 776, histopathology, 750–2 nuclear pleomorphism, stomach, 677, 679–85 778–9 macroscopic appearance, 750 endocrine tissue, 216 neuroendocrine differentiation neurofibromas management, 753 nuclear stripping (naked nuclei) benign breast tumor, 859 cutaneous, 951–2 pathogenesis, 750–3 adrenal cortical cytology, 233 breast carcinoma, see breast thyroid, 564 non-alcoholic steatohepatitis FNA samples, 216, 218 neuroendocrine carcinoma neurofibromatosis type 1 (NF1), (NASH), 749–53 parathyroid chief cells, 219–20 prostatic adenocarcinoma, 851–2 65–6 ancillary tools, 752–3 nucleoli pulmonary large composite clinical features, 750 papillary thyroid carcinoma, cellcarcinoma, 797 pheochromocytomas/ definition, 749 224–5, 474, 476 pulmonary non-small cell paraganglioma, 658 differential diagnosis, 753 parathyroid carcinoma, 220 carcinoma, 801 pheochromocytomas/ grading severity, 752 pheochromocytoma, 641, 655 neuroendocrine ductal paraganglioma, 35–6, histopathology, 751–2 pulmonary small cell carcinoma in situ, breast, 646–8 pathogenesis, 750–3 carcinoma, 230 859, 863–4 pilocytic astrocytoma, 292, 294 staging, 752 nucleoplasm clearing, papillary neuroendocrine secretory protein skin manifestations, 951–2 non-insulinoma thyroid carcinoma, 475–6 55 (NESP55), 1034, 1037 neurogenin 3 (NGN3), 678, 719 pancreatogenous null cell adenoma, pituitary, neuroendocrine tumor neurohypophysis, 315 hypoglycemia, 724 325–56 cell lines, 273, 276 ancillary tools, 325 non-small cell carcinoma, null cells, adenohypophysis, 325 clinical presentation, 28 basophil invasion, 319, 321 pulmonary (NSCLC) endometrium, 896 cell types, 326 with neuroendocrine O6-methylguanine DNA experimental studies, 276 ectopic, 138 differentiation (NSCLC- methyltransferase, female genital tract, 893–9 gross anatomy, 316 NED), 801 predicting response to gastrointestinal, see hypothalamic interactions, with neuroendocrine therapy, 260 gastrointestinal 285 morphology (NSCLC- obesity neuroendocrine tumor imaging, 136, 138 NEM), 801–3 Cushing syndrome, 948–9 grading, 678–9 microscopic anatomy, 317–18 non-thyroidal illness, 97 effects on primary kidney hepatic metastases, see hepatic neurohypophysitis, infundibular, norepinephrine, 101 disease, 824 metastases, 329 granules secreting, 633–4 related insulin resistance, neuroendocrine neurokinin B, placental, 868–81 pheochromocytoma secreting, immunological basis, immunohistochemistry, 253 neuroma, mucosal, 60, 951–2 640 74–5 laboratory investigation, 104–5 neuronatin, 799 physiology, 635 thyroid cancer risk, 463 non-functioning, 28–9 neurons transporter, 205–6 obesity-related glomerulopathy, ovaries, 896–9 adrenal medulla, 630–1 Notch receptors, pulmonary 821–4 pancreatic, see pancreatic posterior pituitary, 325–6 development, 776 ancillary tools, 823 neuroendocrine neuron-specific enolase (NSE), NP-59 (131I-19- clinical features, 821 neoplasm 731, 798, 863 noriodocholesterol) clinicopathological poorly differentiated, see neuropeptide Y (NPY), placental, adrenal imaging, 203–4 correlations, 824 neuroendocrine 868–81 NSE, see neuron-specific enolase differential diagnosis, 824 carcinoma neurophysins, 285 NTRK1 gene rearrangements, epidemiology, 821 primary sites of origin, 1028 neurosarcoidosis, 146, 290–1 464 histopathology, 822–8 prognosis by site of origin, next-generation sequencing, 263, NTRK2/NTRK3 mutations, 800 macroscopic appearance, 822 1028 268–9 NTRK3 gene fusions, 464–5 management, 824–30 prostate, 852 NF1 mutations nuclear enlargement/elongation, pathogenesis, 821–2 pulmonary, see pulmonary (neurofibromatosis 1), papillary thyroid precursor lesions, 822 neuroendocrine tumor 65 carcinoma, 224–5, 474 prognosis, 824–30 radionuclide imaging, 204–11 pheochromocytomas/ nuclear grooves obestatin, developing lung, 777 skin, 915–26 paraganglioma, 35, 641, diagnostic value, 253 OCT4, 306–7 staging, 679 647–8 Hashimoto thyroiditis, 415 Octreoscan, see radionuclides, testis, 845–6 pilocytic astrocytoma, 294 papillary thyroid carcinoma, pentetreotide thymic and mediastinal, 805–12 small bowel neuroendocrine 224–5, 474 octreotide, 345, 355 thyroid, 553 tumor, 695 nuclear medicine Oil red O stain, liver, 747 unknown primary site, 1028–38 Nitabuch layer, 869 conceptual basis, 192 older patients, pituitary gland biomarkers, 1029–33 NKX3.1, 847 hybrid imaging, 194–6 imaging, 138 growth patterns, 1028 Nlrp3 inflammasome, obesity- instrumentation, 194–6 olfactory neuroblastoma, sellar, hormones and hormone related insulin resistance, radiation emission and 366–7 receptors, 1035–6 74–5 detection, 192–3 oligodendroglioma, 365 key points, 1037–8 NOD-like receptors, 78–9 nuclear membrane irregularities, Ollier disease, 1017 structural markers, 1033–5 nodular lesions, gross heterogeneous oncocytic (Hürthle cell) follicular work up, 1036–7 examination, 250 immunohistochemical neoplasm of thyroid, uterine cervix, 894–6 non-alcoholic fatty liver disease evaluation, 493 cytopathology, 224, 226 uterine corpus, 896 (NAFLD), 749–53 papillary thyroid carcinoma, oncocytic (Hürthle cell) thyroid well-differentiated, see well- ancillary tools, 752–3 474–5 carcinoma differentiated clinical features, 750 nuclear molding, pulmonary poorly differentiated, 497 neuroendocrine tumor definition, 749 small cell carcinoma, well differentiated, 488 WHO classification, 771 epidemiology, 749–50 230–1 18F-FDG PET imaging, 209

1062

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Index

differential diagnosis, osteoporosis, 1017–20 papillary thyroid carcinoma, microscopic examination, 252 454–527 beta-blockers and, 1007 493 non-functioning, 30, 726–7 gross examination, 465 glucocorticoid-induced, parathyroid disease, 576, 581, CT and MRI, 169–70 molecular pathogenesis, 465 1019–20 583 prognosis, 734–6 oncocytic follicular adenoma of hyperthyroidism, 1020 pituitary tumorigenesis, 358 reporting, 722 thyroid, 453–4 male hypogonadism, 1018–9 P501S, 847 staging, 726–7, 736 oncocytic metaplasia, Hashimoto postmenopausal, 1017–8 P504S (AMACR, racemase), 847 von Hippel-Lindau disease, thyroiditis, 414–15 therapy, and energy p53, see also TP53 defects 57–8 ophthalmoplegia, 1 metabolism, 1007 adrenocortical carcinoma, WHO classification (2010), opioids, endogenous placental, osteoprotegerin, 1006–8 617–19 236, 726 879–80 osteosarcoma, sellar, 368 anaplastic thyroid carcinoma, pancreatic polypeptide (PP) cells, optic chiasm osteotesticular protein tyrosine 501 pancreas, 720–1 compression by pituitary phosphatase, 1006–7 papillary thyroid carcinoma, hyperplasia, 725 tumor, 1–2, 7 ovaries, 892 487 pancreatic polypeptide (PP)- glioma, 140–1 function, effects of cirrhosis, pituitary tumor, 251, 335–6 producing tumor imaging anatomy, 138 2103thecal metaplasia, p63 appendix, 705 oral contraceptive pill adrenal gland, 763 Merkel cell carcinoma, 918–25 large bowel, 701 associated hepatocellular ovarian tumors, 896–908 prostate, 847–55 pancreas, 728 adenoma, 758 ACTH-dependent, 904–5 paired box 8, see PAX8 small bowel, 691, 699 hepatic effects, 757 adrenal rest tumor, 185, Pallister–Hall syndrome unknown primary site, 1036 oral glucose tolerance test, 904–5 hypothalamic hamartoma, 289 pancreatitis, chronic, 235 acromegaly, 10, 95, 962 carcinoid, 897 pituitary gangliocytoma, 360 Paneth cell-like neuroendocrine oral salt loading test, 99 insular, 897 palmoplantar keratoderma, change, prostate organ of Zuckerkandl, 630 mucinous, 897 hypothyroidism, 956 adenocarcinoma, 851–7 orlistat, 824–31 strumal, 410, 897 pancreas (endocrine), 718–36 papillary adenoma, thyroid, 453, Orphan Annie eye nuclei, 475–6 trabecular, 897 bone–energy metabolism 455 ossification hCG-secreting, 907 interactions, 1005–7 papillary cystadenoma, von endochondral, 992–4 neuroendocrine, 896–9 clinicopathological disorders, Hippel–Lindau disease, membranous, 992–4 non-small cell (or large-cell) 723–36 58 subcutaneous, 939 neuroendocrine embryology, 718–19 papillary thyroid carcinoma ossifying fibroma, 998–1001 carcinoma, 898–9 gross anatomy, 719–20 (PTC), 460–96 osteitis fibrosa cystica, 996–8, prolactin-secreting, 907 histology, 720 AJCC/TNM staging system, 1010 renin- and aldosterone- imaging anatomy, 168–9 21, 35 osteoblasts, 994–5 secreting, 907 immunohistochemistry, 720, atypia-dysplasia-neoplasia bone remodeling, 1008 sex-cord stromal tumor, 722 sequence, 442 bone–hypothalamic system, 899–903 islets, see islets of Langerhans chronic lymphocytic 1006 small cell carcinoma pathological techniques and thyroiditis-related, 119, developing bone, 993 hypercalcemic type, reporting, 722 see also 441, 444, 463 estrogen actions, 1017 898–910 alpha-cells;beta-cells; classical variant, 478–80 glucocorticoid actions, 1019 pulmonary type, 897–8 delta-cells classification issues, 467 insulin signaling, 1006 steroid cell, 903–4 pancreatic neuroendocrine clear cell variant, 488 ultrastructure, 996 teratomas neoplasms, 726–36 clinical presentation, 21–2, 461 osteocalcin, 1004–7 monodermal, 896–7 clinical features, 29–31, 727–8 columnar cell variant, 486, 495 androgen regulation, 1007–8 prolactin-secreting, 907 clinicopathological features, 726 cribriform–morular variant, brain function and, 1008 with Cushing syndrome, 907 cytopathology, 234–6, 730–1 484–5, 490, 493 energy metabolism and, 1006–7 with hypercalcemia, 905–7 differential diagnosis, 733, cystic variant, 485 undercarboxylated, 1004–6 with hypoglycemia, 907 1030, 1032, 1034 cytopathology, 224–6 osteochondroma, sellar, 368 with thyroid hyperfunction, epidemiology, 727 bubble-gum colloid, 222–3 osteoclasts, 992, 994–6 907 experimental studies, 276 epithelial features, 223–4 bone remodeling, 1008 Zollinger–Ellison syndrome, functioning, 726–8 hyalinizing trabecular tumor estrogen actions, 1017 907 genotype–phenotype vs, 226 glucocorticoid actions, 1019 ovotesticular disorder, 839 correlations, 732–3 nuclear features, 225 osteocytes, 994–6 oxyphils (oncocytes) gross examination, 250, 722 psammoma bodies, 226 glucocorticoid actions, 1019 adenohypophysis, 325 hereditary, 29–30, 732–3 suspicious, management osteoma cutis, 939 parathyroid, 573 histogenesis, 729 options, 20–1 osteomalacia, 1013–5 oxytocin, 285–6 histopathology, 722–35 variants, 225–6 calciopenic, 1013–4 localization in imaging, 722–31 differential diagnosis, 445–6, FGF23-related, 1014–5 neurohypophysis, 325 CT and MRI, 169–70, 172 495–6, 1031 laboratory investigation, 103 placental, 875, 879 radionuclide imaging, diffuse sclerosing variant, 466, tumor-induced, 103, 987, 207–8, 210–11 483–508 1014–5 p14ARF promoter, Merkel cell immunohistochemistry, 235, encapsulated follicular variant, vitamin D deficiency, 1013–4 carcinoma, 917 257, 722, 731–2 479 vitamin D-dependent, see p27 laboratory investigation, 104–5 environmental factors, 462–3 vitamin D-dependent jejunoileal neuroendocrine management, 733–4 epidemiology, 460–1 rickets tumor, 699 MEN1, 60 experimental studies, 274–5

1063

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papillary thyroid carcinoma signet-ring cell variant, 488–9, paraganglioma (PGL), 34–7, intraoperative consultations, (PTC) (cont.) 495 650–7 246–7 familial, 62, 461–567 solid variant, 479–95 clinical presentation, 35 parasitic infections follicular variant, 478, 480–90 spindle cell variant, 489–92, composite, 657–8 adrenal, 594–5 classification, 467, 490–503 495 cutaneous, 924 thyroid, 417 cytopathology, 225–6 struma ovarii-related, 411–76 cytological assessment, 231–2 parasitic thyroid nodules, 408–9 genotype–phenotype tall cell variant, 226, 486, diagnosis, 37 parasympathetic paraganglia, correlations, 489–90 490 differential diagnosis, 1034–5, 628–47 increased rates of diagnosis, villous variant, 484, 490 1037 development, 628 460 Warthin-like variant, 489 epidemiology, 34 microscopic anatomy, 631–2 molecular tests, 494 with adipose (lipomatous) experimental models, 276 physiology, 635 follow up, 22 stroma, 485–95 familial syndromes, 34, 58–9, ultrastructure, 634 genotype–phenotype with fasciitis-like stroma, 485, 647–9 parasympathetic paraganglioma, correlations, 489–90 495 gangliocytic, see gangliocytic 652–7 gross examination, 406, with myxoid/mucinous paraganglioma clinical features, 653 429–67 stroma, 447 genotype–phenotype cytopathology, 231, 653–4 histochemistry, 494 papillary thyroid correlations, 35, 647–9 differential diagnosis, 656 histological variants, 476–89 microcarcinoma, 460, head and neck region, see head epidemiology, 652 histopathology, 467–89 478–80 and neck paraganglioma genotype–phenotype invasive growth, 467–73 clinical presentation, 461 hepatic, imaging, 175–6, 178 correlations, 656 nuclear features, 253, 474–6 incidence, 461 imaging, 167, 183, 185, 208, histopathology, 654 psammoma bodies, 474–7 papillary tumor of the pineal 651 imaging, 653 texture changes, 467–76 region, 300, 303–4 immunohistochemistry, 232, immunohistochemistry, 654–5 hobnail cell (micropapillary) imaging, 133–4, 303 258 macroscopic appearance, variant, 487 morphological features, 303 malignant, 658–64 653–4 hyalinizing trabecular variant, para-aortic paraganglioma, differential diagnosis, 663 malignant, 664 482, see also hyalinizing 650 genotype–phenotype treatment and prognosis, trabecular tumor paraffin-embedded sections, see correlations, 662–3 656–7 imaging, 461 formalin-fixed, paraffin- head and neck region, 664 ultrastructure, 655, see also CT and MRI, 152 embedded sections histopathology, 660–1 head and neck ultrasonography, 123–4 parafibromin, 574, 1000 imaging, 659 paraganglioma immunohistochemistry, parathyroid adenoma, 581–3 immunohistochemistry, parathyroid adenoma, 578–81 457–94 parathyroid carcinoma, 583 661–2 ancillary tools, 581 intraoperative consultations, parathyroid hyperplasia, treatment and prognosis, 663 atypical, 580 248 576–8 parasympathetic, see clear (water-clear) cell, 580 lymphatic involvement paraganglia (extra-adrenal), parasympathetic clinical features, 579 CT and MRI, 152–3 628–68 paraganglioma CT and MRI, 156–7 ultrasonography, 124 clinicopathological disorders, sclerotic, 553–4 cystic change, 577–9 MACIS prognostic score, 636–68 sellar region, 363 CT imaging, 156 21–2, 35 developmental lesions, 636 sympathetic, see ultrasonography, 126 macrofollicular variant, embryology, 628, 630 pheochromocytoma; cytopathology, 579 466–81 examination techniques, sympathetic extra- differential diagnosis, 581, management, 496–532 635–6 adrenal paraganglioma 1033 initial, 21–3 gross anatomy, 629–30 synoptic reporting, 668 double (or triple), 581 postoperative risk head and neck, 552, 629, 647 thyroid, see thyroid epidemiology, 578–9 assessment, 22 histochemistry and paraganglioma histopathology, 579–80 surgery, 22 immunohistochemistry, paraneoplastic syndromes, intraoperative consultations, molecular pathogenesis, 632–3 neuroendocrine tumor, 248 442–63 hyperplasia, 636–9 28 macroscopic appearance, 579 molecular tests, 494–5 Beckwith–Wiedeman paranuclear blue bodies, 216, 219 oxyphil, 580 mucinous variant, 489, syndrome, 636–7 Merkel cell carcinoma, 236 radionuclide imaging, 201–3 495–547 histopathology, 638 pulmonary small cell treatment and prognosis, 581 nuclear features imaging, 167 carcinoma, 230 ultrasonography, 111, 126 cytopathology, 225 microscopic anatomy, 631–2 para-ovarian masses, ACTH- variants, 580–1 histopathology, 253, 474–6 parasympathetic, see dependent, 904–5 parathyroid carcinoma, 581–3 immunohistochemical parasympathetic parasellar region lesions, see also ancillary tools, 583 evaluation, 493 paraganglia hypothalamic disorders; clinical features, 581 oncocytic variant, 488 physiology, 635 pituitary disease CT and MRI, 157 pathogenesis, 461–5 sympathetic/sympathoadrenal, imaging, 136–48 cytopathology, 220, 582 prognosis, 496 see sympathetic anatomy, 136–8 differential diagnosis, 583, radial scar-like (sclerotic) paraganglia developmental lesions, 1033–40 variant, 484 ultrastructure, 633–4 138–40 histopathology, 582–3 RAS-like tumor, 490 paraganglioma-like adenoma of neoplastic, 140–5 macroscopic appearance, 582 risk stratification, 21–2, 493–4, thyroid, see hyalinizing non-neoplastic, 145–8 treatment and prognosis, 583 496 trabecular tumor, thyroid other, 148 ultrasonography, 126–7

1064

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Index

parathyroid cell lines, 273, 275 cytopathology, 220, 575, 577 pegvisomant, 345 PGL2, 35, 58, 648–9 parathyroid chief cells, 573 differential diagnosis, 576–8 peliosis hepatis, 760–2 PGL3, 35, 58, 648 cytomorphology, 219–20 familial, 575–6 pemphigus, autoimmune thyroid PGL4, 34–5, 58–9, 648 primary hyperplasia, see immunohistochemistry, 576–7 disease, 955 pheochromocytoma (PCC), parathyroid hyperplasia, intraoperative consultations, 248 Pendred syndrome, 430 34–7, 639–50 primary chief cell macroscopic appearance, 575, pentetreotide imaging, see biochemical testing, 101–2 parathyroid cysts, FNA, 219 577 radionuclides cardiovascular effects, 967–8 parathyroid disease, 574–83 molecular diagnostics, 577 peptide receptor radionuclide clinical presentation, 34, 36, cardiovascular effects, 964–6 primary chief cell, 574–7 therapy, gastrointestinal 640 clinical presentation, 24–5 clinical presentation, 575 neuroendocrine tumor, composite, 645, 657–8 CT and MRI, 156–7 genotype–phenotype 682–3 CT and MRI, 183, 185, experimental models, 275–6 correlations, 576 peptide YY 640 familial, 573–4 histopathology, 575–6 appendiceal neuroendocrine cytopathology, 231–2, 641 intraoperative consultation, treatment and prognosis, tumor, 705 diagnosis, 37 247–8 576–7 large bowel neuroendocrine differential diagnosis, 650, laboratory investigation, 102–4 radionuclide imaging, 201 tumor, 694–701 1034–5 molecular genetics, 573–4 secondary, 577–8 placental, 876, 880 epidemiology, 34, 640 radionuclide imaging, 201–3 tertiary, 578 percentage enhancement experimental models, 276 skin manifestations, 936–7 ultrasonography, 126–7 washout familial syndromes, 34, 58–9, ultrasonography, 126–8 parathyroid lipoadenoma, 576, adrenal adenoma, 181–2 647–9 see also 580–1 adrenocortical carcinoma, 183 genotype–phenotype hyperparathyroidism; parathyroid lipohyperplasia, 576 perforating dermatosis, acquired, correlations, 35, 647–9 hypoparathyroidism parathyroid reoperation, CT and 944, 956 histopathology, 641–5, 654 parathyroid glands, 573–83 MRI, 157 pergolide, 349 immunohistochemistry, 232, anatomy, 573–4 parathyroid tissue pericardium, 959 258, 645–6 CT and MRI, 155–7 aberrant intrathyroidal, 409 pericytes, 983 macroscopic appearance, embryology, 573 cytology, 219–20, 574 perineural invasion, thyroid 641–2 examination techniques, 574 ectopic, 127, 203, 573 carcinoma, 470 management, 650 FNA, 218–20 frozen sections, 574 periodic acid–Schiff (PAS) stain, malignant, 658–63 histology, 573 intraoperative identification, 251 differential diagnosis, 663 immunohistochemistry, 573 247–8 liver, 746 genotype–phenotype intraoperative examination, parathyroid washout technique, with diastase (PASD), 746–7 correlations, 662–3 247–8 127 periosteum, 994 histopathology, 660–1 normal, 573–4 paravacuolar granules, thyroid peripheral nerve sheath tumor imaging, 659 physiology, 574 follicular epithelium, 220 malignant immunohistochemistry, radionuclide imaging, 201–3 paraventricular nucleus, 284–5 composite 657–8 661, 663 ultrasonography, 126–8 parvicellular neurons, 285–6 thyroid, 564 molecular studies, 661 ultrastructure, 573 see also parvovirus B19, 463–502 thyroid, 564 treatment and prognosis, parathyroid tissue PAX-8 peripheral neuroblastic tumor, 663 parathyroid hormone (PTH), gastrointestinal see neuroblastic tumor molecular diagnostics, 646–7 102, 574 neuroendocrine tumor, persistent hyperinsulinemic pathogenesis, 640–1 assay methods, 102 680 hypoglycemia of infancy, prognosis, 650 cardiovascular effects, 964–5 non-thyroid carcinoma, 495–6 724 radionuclide imaging, 208, immunohistochemistry, 1033 thyroid follicular epithelial persistent Müllerian duct 640–70 resistance, 102–3, 1016–7 proliferations, 453–4 syndrome, 840 skin manifestations, 950–1 serum levels tumor of unknown primary, PET, see positron emission synoptic reporting, 668 intraoperative, 248 1030–2, 1037 tomography ultrastructure, 645 primary well-differentiated thyroid Peutz–Jeghers syndrome, 59 von Hippel–Lindau disease, hyperparathyroidism, 24, carcinoma, 464 Sertoli cell tumor, 843, 901 34–5, 57, 641, 644, 103, 1011 PAX8/PPARG rearrangements sex cord tumor with annular 646–7 secondary thyroid follicular adenoma, tubules, 902–3 phosphate hyperparathyroidism, 103 450–96 PGL, see paraganglioma homeostasis, 1004–5 skeletal effects, 1009–10 well-differentiated thyroid PHD2 (EGLN1) mutations, 649 serum, in therapy, 1007, 1018, 1020 carcinoma, 491 phenylethanolamine hyperparathyroidism, parathyroid hormone receptor PCC, see pheochromocytoma N-methyltransferase, 633 1011 type 1, 1009–10 PCR, see polymerase chain pheochromocytes, 632–3, see also phosphatidylinositol 3-kinase inherited defects, 1017 reaction chromaffin cells signaling pathway, parathyroid hormone-related PDE11A mutations, 607, 619 Pheochromocytoma of the thyroid carcinoma, peptide (PTHrP) PDE8B mutations, 607, 619 Adrenal Gland Scaled 464 assay, 104 PDX-1, 1032, 1037 Score (PASS), 660–1 phosphaturic mesenchymal ovarian tumor producing, 907 pediatric patients pheochromocytoma/ tumor, 103, 987–8 placental, 879, 889 craniopharyngioma, 140 paraganglioma (PCC/ phosphopenic rickets, 1014–5 parathyroid hyperplasia, 574–8 neuroblastoma, 664 PGL) syndromes, photometric assays, 91 clear (water-clear) cell, 575 pituitary adenoma, 335 familial, 648 Phox2B, 634 CT and MRI, 156 pituitary gland imaging, 138 PGL1, 35, 58, 648 PHOX2B mutations, 666–7

1065

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PHPT, 838–9 see collision tumor, 356 hyperplasia 332 pituitary microadenoma, 6 hyperparathyroidism, craniopharyngioma adenoma vs, 35, 58, 648 clinical presentation, 7 primary association, 358 Carney complex, 35, 58, imaging, 142–3 Pick adenoma, 272 differential diagnosis, 332–3, 648–9 pituitary stalk (infundibulum) pigment deposition, thyroid 1032–3 McCune–Albright duplicated, 138 gland, 422–3 ectopic, 335 syndrome, 35, 58, 648 imaging, 136, 138 pilocytic astrocytoma, sellar, epidemiology, 334–5 nodular, 34–5, 58–9, 648 pituitary stalk effect, 292–4, 365 etiology, 357–8 hypoplasia, 316, 327–8 hyperprolactinemia, 7, pilomyxoid astrocytoma, sellar, experimental studies, 273–4 imaging, 136–48 288 292, 294 familial, 63–5, 357 infarction, 838 pituitary stone, 346, 350 pineal gland, 298–309 familial isolated syndrome, 65, inflammatory/infectious, 328–30 pituitary transcription factor-1, anatomy and histology, 208 357 intraoperative consultations, see Pit-1 imaging, 207 gangliocytoma association, 361 246–7, 326–7 pituitary tumor, 334–70 physiology, 208 GH-producing, 341–6 metabolic, 330 benign, 334–66 cysts, 207 giant, 336–63 neoplastic, see pituitary tumor differential diagnosis, 1030, imaging, 680–8 gonadotropin producing, 351–5 skin manifestations, 932–6 1032–3, 1035 pineal (region) tumor, 300–9 imaging, 141–5 vascular lesions, 330–1 imaging, 141–5 germ cell tumor, 134–5, 304–9 intraoperative consultation, pituitary duplication, 138, 316, malignant, 366–7 imaging, 132–6 246–7, 326 327–8 mesenchymal and vascular, metastases, 135–6 invasiveness, 336–7 pituitary dwarfism, 316, 328 367–8 papillary tumor, 300, 303–4 large, see pituitary pituitary gland, 315–70 microscopic examination, 251 parenchymal tumor, 300–3 macroadenoma anatomy, 316–25 neuronal and paraneuronal, imaging, 132–4 management, 356 anterior lobe, see 360–3 mechanisms of MEN1, 60, 357 adenohypophysis secondary, see pituitary tumorigenesis, 300–3 multiple, 335 electron microscopy, 327 metastases see also specific of intermediate non-functioning (NFPA), 6–8, embryology, 315–16 tumors differentiation, 133–4, 355–6 examination techniques, 326–7 PITX2 mutations, 327 300, 302–4 clinical presentation, 6–7, gross anatomy, 315–17 placenta, 868 pineoblastoma, 300–2 355 histological anatomy, 318–25 clinicopathological disorders, imaging, 133, 301 diagnosis, 7 histological methods, 327 884–7 molecular and cytogenetic epidemiology, 6 imaging, 136–48 early development, 868–70 studies, 300–3 management, 7, 356 anatomy, 136–8 examination techniques, 884 morphological features, 301–3 morphological features, normal changes, 138 gross anatomy, 868–71 pineocytes, 299 355–6 immunohistochemistry, 327 immunohistochemistry, 884 pineocytoma, 300 natural history and follow intermediate lobe (pars metastases within, 868–86 cytogenetics, 300 up, 7–8 intermedia), 316 microscopic and imaging, 132–3 null cell, 325–56 gross anatomy, 316 ultrastructural anatomy, morphological features, 300–1 prolactin-producing, 344–50 imaging, 138 868, 871–2 Pit-1, 318, 336, 1032–3 radiological classification, 336 microscopic anatomy, 317 placental alkaline phosphatase, acidophil stem adenoma, 347–8 reporting, 327 microscopic anatomy, 317–18 306–7 GH-producing adenoma, 341–4 silent subtype 3, 7, 350–5 normal, 315–16 placental growth factor, 877, prolactin-producing adenoma, small, see pituitary pars distalis, see 882 339–47 microadenoma adenohypophysis placental hormones, 872–84 silent subtype 3 adenoma, 350 sporadic, 357–8 pars intermedia, see pituitary complex disorders of thyrotroph adenoma, 350–1 TSH-producing, 350–1 gland, intermediate lobe pregnancy, 885–6 PIT1 mutations, 316, 328 unusual plurihormonal, 356–7 pars nervosa, see peptide hormones, 873–82 pituicytes, 317–18, 325–6 WHO 2004 classification, neurohypophysis regulation of production, 884 variants, 325 335–6 pars tuberalis (pars steroid, 874, 882–3 pituicytoma, 141, 363–5 pituitary blastoma, 316, 327–8 infundibularis), 316–17 placental lactogens, human, 203–5 differential diagnosis, 1030 pituitary carcinoma, 203–5 pharyngeal, 315–16 placental site, 872 granular cell (granular cell pituitary disease, 203, 209–11 portal vascular system, 316–17 plasmacytoma, thyroid, 557–60 tumor, choristomas), aplasia, 316, 327–8 posterior lobe, see pleuropulmonary blastoma 363–5 anatomical pathology, 203, neurohypophysis family tumor and oncocytic (spindle cell 209–11 reporting of pathology, 327 dysplasia syndrome, see oncocytoma), 145, 363–5 apoplexy, 331 pituitary hormones, 93–4 DICER1-related familial pituitary adenoma, 334–58 imaging, 145–6 placenta-derived, 878–9 tumor susceptibility ACTH-producing, 337–40 large prolactinoma, 349 pituitary infundibulum, see syndrome atypical, 251, 335–6 biochemical testing, 93–6 pituitary stalk Pneumocystis irovecii infections, carcinoma metastasizing to, cardiovascular effects, 961–2 pituitary macroadenoma, 6, 141 thyroid, 417 368 cysts and other tumor-like clinical presentation, 141 podocyte lesions Carney complex, 63, 357 lesions, 331–2 Cushing disease, 12 diabetic nephropathy, 826 cell lines, 273–4 developmental lesions, 138–40, imaging, 143–5 obesity-related classification, 6, 335–7 327–8 non-functioning, 7–8, 355 glomerulopathy, 821–8 clinical presentation, 1 dystopia, 331 pituitary metastases, 15, 145, POEMS syndrome, 767 clinically functioning, 6, 8–14 experimental models, 273–4 368–70 skin manifestations, 956–7

1066

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polyclonal antisera, 254 preadipocytes, 980 pituitary adenoma producing, protein metabolism, hepatic polycystic ovary syndrome, skin precocious puberty 344–50 function, 748 manifestations, 951 central (gonadotropin- plasma, 8, 94, 345–6 proteolytic induced epitope polyglandular autoimmune dependent), 286–7, 353, secreting cells, 321–2 retrieval, 255–6 syndrome, 203, 205–7 841 prolactin release-inhibitory Proteus syndrome, 66 type 1, 208–9 hypothalamic hamartoma, factor, decidual, 875, Proteus-like syndrome, 66 Addison disease, 680–8 286, 289 878 proton pump inhibitors, 30, 691 hepatitis, 798, 803 idiopathic central, 287 prolactinoma, 8, 345–50, see also psammoma bodies hypoparathyroidism, 895 male, 841 lactotroph adenoma papillary thyroid carcinoma, pathogenesis, 863 peripheral, 841 clinical presentation, 2, 8, 345 476 skin manifestations, 798, pituitary gangliocytoma, 360 diagnosis, 8–9, 346 small bowel neuroendocrine 802 pre-eclampsia, 868–86 dopamine agonist effects, tumor, 692–706 type 2, 208 pregnancy 347–9 thyroid FNA samples, 226 Addison disease, 230, 802 hepatic effects, 757 epidemiology, 8 PSCNT (post-FNA spindle cell pathogenesis, 895 lactotroph hyperplasia, 334 giant, 345, 349 nodules of thyroid), polymerase chain reaction pituitary gland imaging, 138 imaging, 142 437–41 (PCR), 261–4 thyroid function testing, 97 management, 349–50 pseudocapsular invasion, thyroid digital, 267 pregnancy-associated plasma morphological features, 346 nodules, 434–9, 441 real-time, 267 protein A, 877, 882 prolactin-releasing factor, pseudo-Cushing syndrome, 337, fi β polymeric pregnancy-speci c 1- decidual, 875, 878 763 immunohistochemistry glycoproteins, 876, 881–2 proliferation markers, see Ki-67; pseudohypoparathyroidism, methods, 255 preproinsulin promoter mitotic activity 1016–7 polyorchism, 838 polymorphisms, 72 proopiomelanocortin, 318, 337 laboratory diagnosis, 102–3 poorly differentiated thyroid pretibial myxedema, 18–19, 427, PROP1 mutations, 328 skin manifestations, 939 carcinoma, 496–500 953–5 prostate, 846–52 type 1a, 1016 clinical presentation, 22–4, 497 primary biliary cirrhosis, 770 anatomy, 846 type 1b, 1016 cytopathology, 227, 497 primary hyperoxaluria, 766–7 androgens and, 848 type 2, 1017 diagnostic algorithm (Turin type 1 (PH1), 766 anterior fibromuscular zone, pseudo-pseudohypoparathy- proposal), 498 type 2 (PH2), 766 846–55 roidism, histopathology, 497–8 type 3 (PH3), 766 central zone, 846–7 1016 immunohistochemistry, 496–9 primary pigmented nodular effects of androgen pseudovascular invasion, thyroid molecular genetic changes, 499 adrenocortical disease deprivation, 850 nodules, 437–8, 441 prognosis and predictive (PPNAD) embryology, 846–55 PTEN mutations, 461–539 factors, 500 Carney complex, 62–6 histology, 846–55 PTEN hamartoma tumor portal vein, 744–5 clinical presentation, 26 immunohistochemistry, 847 syndrome, 66 positive controls, histopathology, 64, 613 peripheral zone, 846–55 benign thyroid follicular immunohistochemistry, imaging, 185 secretions, 847–8 epithelial proliferations, 257 macroscopic appearance, 64 transition zone, 846–7 450 positron emission tomography management, 607–21 prostate cancer antigen 3 C-cell hyperplasia, 518 (PET) pathogenesis, 607 (PCA-3) test, 848 thyroid carcinoma, 461–3, 18F-FDG, see radionuclides primary villous stems, 869 prostate-specific acid 490 hybrid CT scanners (PET/CT), primitive sympathetic cells, 628 phosphatase, 846–7 PTEN immunohistochemistry, 194–5 Beckwith–Wiedeman prostate-specific antigen (PSA), 494 instrumentation, 194 syndrome, 637 846–7 PTH, see parathyroid hormone medullary thyroid carcinoma, PRKACA mutations, 607, 620 prostate-specific membrane PTPN22 polymorphism, type 1 208–9 PRKAR1A mutations, 9, 62, 607, antigen, 847 diabetes, 72 MRI integration (PET/MRI), 619, 971 prostatic acid phosphatase, puberty 195–6 procalcitonin assay, 98 1036 delayed, 767, 841 neuroblastoma, 208 progesterone prostatic adenocarcinoma, precocious, see precocious pancreas and bowel breast development, 858 851 puberty neuroendocrine tumors, placental production, 868–82 androgen deprivation therapy, pulmonary carcinoid (well- 204–5, 207–8 progesterone receptor, 1036 848–50 differentiated pulmonary carcinoid, 788 prohormone convertases, 318 castrate-resistant, 850–6 neuroendocrine tumor), thyroid cancer, 198 proinsulin, diagnostic assay, 105 neuroendocrine 786–97 positrons prolactin differentiation, 851–2 atypical, 794–7 detection, 193 amniotic fluid (human Paneth cell-like ancillary tools, 795–6 emission, 192–3 chorionic), 868–79 neuroendocrine change, clinical features, 794 posterior pituitary ectopia, 138 biochemical testing, 93–4 851 CT and MRI, 162–3 post-fine-needle aspiration breast development, 858 protein geneproduct 9.5 cytopathology, 229, 795 spindle cell nodules of control of secretion, 286, 879 (PGP9.5), 731–9, 798 differential diagnosis, 796–7 thyroid, 437–41 deficiency, 4 protein kinase A (PKA) pathway, histopathology, 786, 794–5 postpartum thyroiditis, 77, 416 ectopic secretion, 346, 907 see cAMP/protein kinase imaging, 795 power Doppler ultrasonography, excess, see hyperprolactinemia A pathway macroscopic appearance, 112 immunoreactivity, lactotroph protein kinase C, activation by 795 PPM1D mutations, 464–7 adenoma, 339–61 hyperglycemia, 968 molecular analysis, 795–6

1067

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pulmonary carcinoid (well- clinical manifestations, 29, methods, 111–16 111In-pentetreotide differentiated neuroendocrine 32–3 reflection based modalities, 109 (Octreoscan), 203–5 tumor) (cont.) combined, 805 transmission based modalities, medullary thyroid cancer, treatment and prognosis, CT and MRI, 162–5 109 see also specific 208 797 cytological assessment, 228–31 modalities pancreas and bowel CT and MRI, 162–4 differential diagnosis, 1030 radionuclide imaging, 109, neuroendocrine tumors, cytopathology, 229 high-grade malignant, 192–211 207 epidemiology, 786, 794 797–805 abdomen, 203–9 paraganglioma, 208 immunohistochemistry, 229, histopathological features, 786 head-and-neck region, peptide receptor radionuclide, 790–3, 795–6 immunohistochemistry, 792 196–203 682–3 intraoperative consultations, large cell carcinoma, see large instrumentation, 194–6 99mTc-pertechnetate, thyroid 789 cell neuroendocrine neuroendocrine tumor, 204–9 imaging, 196 molecular analysis, 791, 794 carcinoma, pulmonary principles, 192–4 99mTc-sestamibi, 203 precursor lesions, 785, 788 molecular analysis, 794 radiopharmaceuticals, 193–4, production methods, 193–4 radionuclide imaging, 207, 210 precursor lesions, 785 203 radiotherapy thymic carcinoid vs, 808 secondary, 812–13 thyroid imaging, 196 Merkel cell carcinoma, 922 typical, 786–94 small cell carcinoma, see small whole-body, see iodine isotope papillary thyroid carcinoma, clinical features, 786–7 cell carcinoma, whole body scanning see 22 cytopathology, 229, 788 pulmonary also nuclear medicine pituitary adenoma, 345, 350 differential diagnosis, 792 synoptic reporting, 813–14 radionuclides RAF kinases, 464 histopathology, 786, 788–9 well-differentiated, see 68Ga-DOTA-NOC/TOC/ raloxifene, 1007, 1018 imaging, 787 pulmonary carcinoid TATE, 203–5 RANKL, 1006–8, 1010, 1017–8 macroscopic appearance, pulmonary nodules, imaging, medullary thyroid cancer, RAS mutations 788 163 209 poorly differentiated thyroid treatment and prognosis, pulmonary paraganglioma, 652, pancreatic and bowel carcinoma, 499 792–4 656 neuroendocrine tumors, thyroid follicular adenoma, pulmonary chondroma, Carney pulmonary tumorlets, 781, 784 207–8, 680 450, 494 triad, 59 pure gonadal dysgenesis, 839 paraganglioma, 208, 651, well-differentiated thyroid pulmonary hypertension, thyroid pyridoxamine, 830 653 carcinoma, 464 disease, 963 pyrosequencing, 265 18F-fluorodeoxyglucose RAS protein, 464 pulmonary neuroendocrine cell (18F-FDG) PET, 203, RASAL1 mutations, 461–2 hyperplasia, 780–4 quality assurance 209–11 RAS-like tumor of thyroid, 490, diffuse idiopathic, see diffuse immunohistochemistry, 256–7 clinical applications, 209–11 492–3 idiopathic pulmonary intraoperative consultations, medullary thyroid cancer, RASSF1 promoter 1, 800 neuroendocrine cell 244 209 Rathke cleft cysts, 331 hyperplasia quinagolide, 349 pheochromocytomas/ craniopharyngioma vs, 359 histopathology, 781–2 paraganglioma, 659 imaging, 139–40 hormonal products, 784–5 raccoon eyes, 936 technical background, 209 morphological features, 331 linear, 781–2 racemase (P504S), 847 18F-fluorodopa (18F-FDOPA), Rathke pouch, 315–16 nodular, 781–2 radial scar-like spindle cell 203, 205–7 reactive changes, thyroid non-neoplastic conditions, fibroblastic- medullary thyroid follicular epithelial 780–2 myofibroblastic nodule of carcinoma, 208–9 proliferations, 434–41 of infancy, 780 the adrenal gland, 596 neuroblastoma, 208 reactive cytological atypia, pulmonary neuroendocrine cells radiation pancreas and bowel thyroid, 435–7 (PNEC), 776–9 detection, 192–3 neuroendocrine tumor, atypia–dysplasia–neoplasia development, 776–8 emission, 192–3 205, 207–8 sequence, 442 gene expression profile, 778–9 induced thyroid cancer, 422, paraganglioma, 208 differential diagnosis, 440–1, histochemistry and 462–3 123I/131I- 445–6, 495 immunohistochemistry, ionizing, 109 metaiodobenzylguanidine immunohistochemistry, 444, 778–9 thyroid changes due to, 422 (mIBG), 203–7 446 microscopic anatomy, 778 radioactive iodine therapy neuroblastoma, 208 mapping, 476, 478 physiology, 779 papillary thyroid cancer, 22 pancreas and bowel thyroiditis-related, 437, 440–3 pulmonary hypoplasia, 780 poorly differentiated thyroid neuroendocrine tumors, reactive spindle cell ultrastructure, 778–9 cancer, 24 207 proliferations, thyroid pulmonary neuroendocrine radioactive iodine uptake, 192, paraganglioma, 208, 651 nodules, 437–41 lesions, 776–805 196–7 pheochromocytoma, 208, reactive vascular endothelial classification, 786 radiography, 109 640 proliferations, thyroid examination techniques, radioimmunoassay, 91 99mTc- nodules, 437–537 779–80 radiological imaging, 109–211 methoxyisobutylisonitrile rectum neoplastic, see pulmonary applications in endocrine (MIBI), 201–3 anatomy and histology, 700 neuroendocrine tumor disease, 117–211 NP-59 (131I–19-nor- imaging anatomy, 175 non-neoplastic, 780–2 contrast materials, 110 iodocholesterol) adrenal neuroendocrine tumor, see pulmonary neuroendocrine emission based modalities, imaging, 203–4 colorectal tumor, 786–805 109–10 nuclear disintegration neuroendocrine tumor classification, 786 image recording, 110 processes, 192–3 red cytoplasmic granules, 216, 232

1068

© in this web service Cambridge University Press www.cambridge.org Cambridge University Press 978-1-107-44331-0 - Endocrine Pathology Edited by Ozgur Mete and Sylvia L. Asa Index More information

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5α-reductase, 835 RET/PTC rearrangements scleredema diabeticorum, 940–2, serotonin-producing deficiency, 840 chronic lymphocytic 952 neuroendocrine tumor, reference intervals, 89–90 thyroiditis, 445 sclerosing peritonitis, luteinized see also carcinoid reference standards, 90 experimental studies, 275 thecoma associated with, syndrome; Reinke crystals, 844, 903 papillary thyroid carcinoma, 902 enterochromaffin cell; relative percentage enhancement 62, 464, 476–534 SDH, see succinate neuroendocrine tumor washout, adrenal lesions, rickets, 1013–5 dehydrogenase distal small bowel, 696–9 181–3 autosomal dominant SDH mutations, 58–9 gastric, 687–8 relaxin hypophosphatemic, 1005, genotype–phenotype laboratory investigation, 104–5 placental, 874, 878–9 1015 correlations, 648–9 large bowel, 694–702 testicular function, 837 calciopenic, 1013–4 paraganglioma, 543–55, 652 pancreas, 726 renal cell carcinoma FGF23-related, 1014–5 pituitary adenoma, 357 proximal small bowel, adrenal metastases, 668 laboratory investigation, 103 SDHA mutations, 59, 648–9 692–700 thyroid metastases, 495–569, phosphopenic, 1014–5 SDHA immunohistochemistry, Sertoli cell only seminiferous 571 tumor-induced, 103, 987, pheochromocytoma, 646 tubules, 842 von Hippel–Lindau disease, 1014–5 SDHAF2 mutations, 58, 648, 656 mixed with normal tubules, 57–8 vitamin D deficiency, 1013–4 genotype–phenotype relations, 842 renal failure, chronic, see chronic vitamin D-dependent, 103, 35, 648–9 Sertoli cell tumor, 843–55 kidney disease 1014 SDHB mutations, 58–9 Carney complex, 63, 843 renal osteodystrophy, 1013 X-linked hypophosphatemic, abdominal paraganglioma, immunohistochemistry, 837, renal transplantation, tertiary 1014 651–2, 663 844 hyperparathyroidism, Riedel thyroiditis, 418 gene expression profiling, large cell calcifying, 844 104, 578 differential diagnosis, 416 646–7 ovarian, 901 renal tubular dysfunction, imaging, 119, 149–51 genotype–phenotype relations, sclerosing, 844 rickets, 1015 rituximab, type 1 diabetes, 73–4 34–5, 648 Sertoli cells, 834–6 renin RNA extraction, 263–4 malignancy risk, 662–3 Sertoli–Leydig tumor, ovarian, measurement, 99 Rohr layer, 869 SDHB immunohistochemistry 901–2 ovarian tumor secreting, 907 Rosenthal fibers, 293 paraganglioma and moderately and poorly reproductive hormones, ruboxistaurin, 830 pheochromocytoma, 59 differentiated, 901–2 biochemical testing, pheochromocytoma, 646 well differentiated, 901 95–6 S cells, small bowel, 677 thyroid paraganglioma, 553–5 sestamibi, see radionuclides resistance to thyroid hormone, S-100 immunoreactivity well-differentiated thyroid SETTLE, see spindle epithelial 98 Merkel cell carcinoma, 920 carcinoma, 494 tumor with thymus-like RET gene fusions, papillary paraganglioma, 553, 645–66 SDHC mutations, 35, 58, 648 differentiation thyroid carcinoma, pheochromocytoma, 645 SDHD mutations, 58, 648, 656 sex cord tumor with annular 464–5, 490 sustentacular cells, 633 gene expression profiling, tubules, ovary, 902–3 RET mutations tumors of unknown primary, 646–7 sex determination, 834 Hirschsprung disease, 527 1034, 1038 genotype–phenotype relations, sex hormone-binding globulin, medullary thyroid carcinoma, saline infusion test, 96, 99 35, 648 93, 95 522–31 saliva specimens, 89 GH-producing pituitary sex steroids MEN2, 60–1 salivary gland neoplasm, sellar adenoma, 9, 65 adrenocortical tumor parathyroid disease, 573–4 region, 332 SDHD knockout mice, 276 producing, 604, 614 pheochromocytoma, 35, 641, salivary gland rests, pituitary seizures biochemical testing, 95–6 647 gland, 332 complex partial, 1 hepatic effects of exogenous, prophylactic thyroidectomy, Sanderson polsters, 422–6 hypothalamic hamartoma, 757–61 528 sandwich assays, 92 289–90 sex-cord stromal tumor rete testis, 837 Sanger dideoxy sequencing, 265 sella turcica, 315 ovarian, 899–903 reticulin algorithm, sarcoidosis, hypothalamic– empty, 138, 316, 328 testis, 843–5 adrenocortical tumor, pituitary region, 146, imaging anatomy, 136–8 mixed, 845 611, 617 290–1 seminiferous tubules, 836 undifferentiated, 845–55 reticulin stain sarcoma, sellar region, 368 sclerosis and fibrosis, 842–3 SF-1, see steroidogenic factor-1 adrenocortical carcinoma, saturated fatty acids, obesity- Sertoli cell only, 842 Sheehan syndrome, 330 594–615 related insulin resistance, Sertoli cell only admixed with shin spots, 940 liver, 746–7 74 normal, 842 sick euthyroid syndrome, 97 malignant Schmidt syndrome, see seminoma, signet-ring cell carcinoma, pheochromocytoma, 661, polyglandular immunohistochemistry, metastatic thyroid, 495 663 autoimmune syndrome 837 silent tumors pituitary adenoma/ type 2 sentinel lymph node biopsy, corticotroph adenoma, 7–8, hyperplasia, 327, 332–3 schwannomas Merkel cell carcinoma, 355 retinal hemangioblastoma, von Carney complex, 63 920, 922 with honeycomb Golgi Hippel–Lindau disease, sellar, 365–6 septo-optic dysplasia, 288–9, 316 complex, 355 57 thyroid, 564 serotonin gonadotroph adenoma, 355 retinoblastoma, bilateral, with scintigraphy, see radionuclide bone–hypothalamic system, lactotroph adenoma, 355 pineoblastoma (triple imaging 1006 pituitary adenoma subtype, retinoblastoma), 133, 301 scintillation counters, 192–3 cardiac effects, 970 341–4

1069

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silent tumors (cont.) clinical features, 692 electron microscopy, 401–537 adenoma, 602 somatotroph adenoma, 355 differential diagnosis, 695 immunohistochemistry, 401, clinical presentation, 9 thyrotroph adenoma, 355 epidemiology, 691–2 445–6 densely granulated, 341–2 single nucleotide polymorphism histopathology, 692–4 thyroiditis-related hyperplasia, etiology, 357–8 (SNP) arrays, 262–3 hyperplasia, 691 445–6 imaging, 142–3 single photon emission CT immunohistochemistry and solid papillary carcinoma, breast, silent, 355 (SPECT), 194–5 ultrastructure, 694–5 859, 863–4 sparsely granulated, 252, hybrid CT scanners (SPECT/ macroscopic appearance, solid pseudopapillary 341–3 CT), 194–5 692 neoplasm, pancreas, unclassified, 344 neuroendocrine tumor, 204, molecular analysis, 695 235–6 somatotropinoma, isolated 207 treatment and prognosis, solitary fibrous tumor, 986–90 familial (IFS), 357 parathyroid disease, 201 695–6 sellar, 368 somatotroph-lactotroph pheochromocytoma/ laboratory investigation, 104–5 thyroid, 565–6 adenoma, mixed, 357 paraganglioma, 208 small cell carcinoma of ovary, see somatic copy number alterations, specificity, antibody, 253 thyroid cancer, 199–200 ovarian small cell papillary thyroid SPECT, see single photon single probe counting system, carcinoma carcinoma, 465, 494 emission CT 196 small cell carcinoma, pulmonary somatomedin C, see insulin-like spectral Doppler imaging, 111 Sipple syndrome, see multiple (SCLC), 805–19 growth factor-1 spermatids, 837 endocrine neoplasia type clinical features, 33, 801 somatostatin (SST) spermatocytes, 837 2A combined, 230, 802, 805 assay, 105 spermatogenesis, 836–7 skeletal muscle Cushing syndrome, 32–3 extrahypothalamic sources, Johnsen score, 842–3 anatomy, 981 cytopathology, 230, 802 286 maturation arrest, 842 development, 979–80 differential diagnosis, 805, 922 hypothalamic secretion, 285–6 normal, 842 histology, 982 histopathology, 786, 807–8 producing neuroendocrine reduced, 842 inflammation, obesity-related imaging, 163–5, 801 tumor, see spermatogonia, 836–7 insulin resistance, 75 immunohistochemistry, 230, somatostatinoma spermatozoa, normal testis, 837 invasion, thyroid carcinoma, 792, 802, 812 somatostatin analogs spin echo MRI, 116 466, 470–3 macroscopic appearance, 802 acromegaly, 345 spindle cell ultrastructure, 983–5 pathogenesis and precursor gastrointestinal oncocytoma (oncocytic Skene glands, 892 lesions, 785, 801–2 neuroendocrine tumor, pituicytoma), 145, 363–5 skin, 914–57 treatment and prognosis, 805 682 proliferations, reactive, thyroid examination techniques, small cell neuroendocrine pancreatic neuroendocrine nodules, 437–41 914–15 carcinoma tumor, 734–41 thyroid lesions with, 562–3 inflammatory and neoplastic breast, 861 somatostatin receptor spindle epithelial tumor with disorders, 915 endometrium, 896 imaging, 116 thymus-like manifestations of endocrine gallbladder and extra-hepatic neuroendocrine tumor, 208 differentiation (SETTLE), disease, 932 bile ducts, 682–709 pancreatic neuroendocrine thyroid, 547, 549–50 neuroendocrine cells, see large bowel, 701 tumor, 207 histopathology, 549–50 Merkel cells prostate, 852 paraganglioma, 208, 651 immunohistochemistry, 550 neuroendocrine lesions, small bowel, 682–92 pulmonary carcinoid, 208, spiral arteries, trophoblast 915–26 thymus, 809 640 invasion, 868–72 normal, 914–15 histopathology, 810 immunohistochemistry, 259, spironolactone bodies, 594–611 skin biopsy, 914–15 immunohistochemistry, 811 732–40 squamous metaplasia, well- skin infections uterine cervix, 894–6 radionuclide therapy targeting, differentiated thyroid Cushing syndrome, 949, 954 vagina, 893–4 682–3 carcinoma, 495–6 diabetes mellitus, 946 small round cell tumor, skin, somatostatinoma, 691 SRY, 834 skin tags 920–2, 933 clinical presentation, 29, 31, stains, histological, 251 acromegaly, 932 small vessel disease, diabetic, 969, 692, 728 steatohepatitis, 743 diabetes mellitus, 946 971 duodenum/proximal small histochemistry, 747 skin thinning, Cushing SMARCA4 mutations, 905–6 bowel, 691 non-alcoholic, see non- syndrome, 948, 952 smears, direct, 215–17 differential diagnosis, 695 alcoholic steatohepatitis small bowel, 690–9 smooth muscle tumor, thyroid, histopathology, 692, 694 steatosis, hepatic, see hepatic anatomy and histology, 690–1 562–4 immunohistochemistry and steatosis embryology, 690 Soemmering muscle, 470–3 ultrastructure, 694–700 stem cell research, 276 imaging, 173 soft tissue, 979–88 macroscopic appearance, steroid cell tumor, ovarian, neuroendocrine cells, 677, 691 anatomy, 981–2 695–6 903–4 small bowel neuroendocrine embryology, 979–81 molecular changes, 695 not otherwise specified, 903–4 tumor, 691–9 examination techniques, 985 prognosis, 696 steroid hormones, 87–8 clinical presentation, 29, 33–4 histology, 982–3 laboratory investigation, hepatic effects, 755–61 CT and MRI, 173–4 neoplasms with endocrine 105 placental, 874, 882–3 distal jejunum and ileum, see features, 985–8 somatotroph, 336, 341–4 producing cells, jejunoileal ultrastructure, 983–5 differentiation, 318–72 immunohistochemistry, neuroendocrine tumor solid cell nests, thyroid, 400 hyperplasia, 10, 332 258 duodenum, ampulla and CASTLE origins, 547 transdifferentiation, 318, steroidogenesis, adrenal, see proximal jejunum, 691–9 developmental origin, 398, 400 321–2 adrenal steroidogenesis

1070

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Index

steroidogenic factor-1 (SF-1) immunohistochemistry, 633 Hashimoto thyroiditis, 76, testosterone adrenocortical development, malignant 78 bioavailable, 93, 95 588–97 pheochromocytomas/ obesity-related insulin biochemical testing, 95–6 adrenocortical proliferations, paraganglioma, 661 resistance, 74–5 biosynthesis, 840, 848–56 617 paraganglioma, 232, 553, 654 Th2-mediated response developing testis, 835 gonadotroph development, pheochromocytoma, 641, 645 effects of stress, 77 inherited defects, 840 316–18 sweat gland carcinoma Graves disease, 75–8 free, 93, 95 ovarian steroid cell tumor, 904 adnexal, with neuroendocrine T3, see triiodothyronine mechanism of action, 848–9 pituitary null cell adenoma, features, 924, 938 T4, see thyroxine osteocalcin-mediated 355–6 endocrine mucin-producing, TCF1 mutations, see HNF1A regulation, 1007–8 tumors of unknown primary, 924, 935 mutations skeletal effects, 1018–9 1032–3 Swyer syndrome, 839 technetium-99m therapy, 1019 stimulation tests, 90 sympathetic cells, primitive, see production, 193 total (TT), 95–6 STK11 (LKB1) mutations, 66 primitive sympathetic radioactive decay, 192–3 testotoxicosis, 841–54 stomach, 684–90 cells MIBI scintigraphy, 201–3 texture changes, papillary thyroid anatomy and histology, 684–5 sympathetic extra-adrenal pertechnetate, thyroid carcinoma, 476 embryology, 679–84 paraganglioma, 231, imaging, 196 THADA fusions, 464–5 hyperplasia and dysplasia, 650–1, see also telogen effluvium, 953 thecoma, 902 685–7 pheochromocytoma temozolomide, 260, 345 luteinized, with sclerosing imaging anatomy, 172 clinical features, 650–1 tendons peritonitis, 902 neuroendocrine cells, 677, 684–5 differential diagnosis, 652 anatomy, 981–2 thoracic CT and MRI imaging, neuroendocrine tumor, see genotype–phenotype development, 979 161–7 gastric neuroendocrine correlations, 652 histology, 982 thoracic sympathetic neoplasm imaging, 651 teratomas paraganglioma, 650–1 strap muscle invasion, thyroid malignant, 658–63 hypothalamic/suprasellar, thrombus, intravascular, well- carcinoma, 466, 470–3 pathology, 651–2 297–8 differentiated thyroid streak gonads, 839–51 treatment and prognosis, 652 immature, 308 carcinoma, 470, 494 streptavidin, labeled, 255 sympathetic paraganglia, 628–9 malignant transformation, 308 thymic carcinoid, 805–9 stress development, 628 mature, 308 cyto-histopathology, 807–8 sympathoadrenal response, 635 neuroblastoma origin, 636–65 mixed with other germ cell differential diagnosis, 808 thyroid autoimmunity ultrastructure anatomy, 634 tumor types, 309 imaging, 806 pathogenesis, 77 see also adrenal medulla ovarian, see ovarian teratoma thymic carcinoma, 809–12 striae distensae, Cushing synaptophysin, 253–7 pineal, 134–5, 308–9 histopathology, 810 syndrome, 948 breast carcinoma, 863 thyroid, 564–5 immunohistochemistry, 811 stripped nuclei, see nuclear chromaffin cells, 633 teriparatide, 1007, 1018 thymic hyperplasia, 166 stripping gastrointestinal TERT promoter mutations, 490, lymphoid, 166 struma ovarii, 410–11, 896–7 neuroendocrine tumor, 494 true, 166 malignant, 411 680–8 testes, 834–46 thymic neuroendocrine tumor, radionuclide imaging, 201 neuroblastoma, 666 absent (anorchism), 838 805–12 strumal carcinoid, ovarian, 410, pancreatic neuroendocrine anatomy, 834 examination techniques, 897 tumor, 235 blood supply, 837 779–80 subacute (de Quervain) pheochromocytoma, 645 cirrhosis-related changes, 763 imaging, 166 thyroiditis, 417–18 pulmonary carcinoid, 790–1, descent, 835–6 synoptic reporting, 813–14 atypical (silent thyroiditis), 793 embryology, 834–5 thymoma 118, 418 pulmonary large cell histology, 836–7 ectopic cervical, 547 CT and MRI, 149 neuroendocrine innervation, 837 ectopic hamartomatous, 547 pathology, 417–18 carcinoma, 798, 804 more than two, 838 intrathyroidal, see carcinoma ultrasonography, 117–18 pulmonary neuroendocrine osteocalcin receptors, 1007–8 showing thymus-like subarachnoid hemorrhage, cells, 777–8 regression, 838–9 differentiation of thyroid pituitary apoplexy, 145–6 pulmonary small cell size variations, 838 thymus succinate dehydrogenase (SDH), carcinoma, 812 undescended, 835–6, 838 imaging, 165–6 58, see also SDH thymic carcinoma, 811–12 testicular adrenal rest tissue/ intrathyroidal, 409, 547 mutations syncytiotrophoblast, 869, 871–2 tumor, 185, 592, 614 metastatic lymph nodes vs, 249 sulfonylureas, skin syndrome of inappropriate testicular biopsy, infertility, neuroendocrine cells, 776 complications, 946 secretion of antidiuretic 843–54 parathyroid tissue vs, 247 sulodexide, 830 hormone, 29, 33, 96, testicular carcinoma in situ, see thyroidectomy specimens, 404 sun exposure, Merkel cell 287–300 intratubular germ cell thymus-like features, thyroid carcinoma risk, 917 neoplasia tumor with, 547 supraoptic nucleus, 284–5 T-cells, 71 testicular feminization, 840–1 thyroglobulin suprasellar region, imaging Hashimoto thyroiditis, 413–15 testicular hypertrophy, 838 autoantibodies, 97–8 anatomy, 138 type 1 diabetes, 72 testicular neoplasm, 843–6 fetal synthesis, 398 sustentacular cells T helper cells, Hashimoto immunohistochemistry, 837 gene polymorphisms, 77 adrenal medulla, 628, 630–2 thyroiditis, 413–14 neuroendocrine (carcinoid) immunoreactivity extra-adrenal paraganglia, Th1-mediated response, 72 tumor, 845–6 follicular epithelial 631–2 effects of stress, 77 sex-cord stromal tumor, 843–55 proliferations, 453

1071

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thyroglobulin (cont.) ultrasonography, 120–1 see follicular/Hürthle cell cyto-histopathology, 442–3 well-differentiated thyroid also thyroid nodules, neoplasm, 21, 221, 226 differential diagnosis, 444–6 carcinoma, 457–91 cystic indeterminate, 20–1, 228 management, 446 physiological function, 402 thyroid cytology, see thyroid indications, 126, 407 pathogenesis, 442 plasma, 98, 402 FNA lymphoma, 227–8, 558 thyroid follicular epithelial thyroglossal duct, 398 thyroid deficiency cells, see malignant, 221 hyperplasia, 425–6, 451 thyroglossal duct cysts, 408–9 thyroidectomy cells medullary carcinoma, 226–7, thyroid follicular epithelial thyroid carcinoma in, 408 thyroid dermopathy, see pretibial 523 proliferations, 448–502, thyroid acropachy, 954 myxedema metastatic tumor, 228, see also thyroid nodules thyroid adenomas, see thyroid thyroid disease 495–569 benign, 448–534 follicular adenoma autoimmune, see autoimmune molecular testing, 228, 494–5 clinical features, 449 thyroid agenesis, radionuclide thyroid disease non-diagnostic, 221 differential diagnosis, 456–7 imaging, 197 cardiovascular effects, 962–4 papillary carcinoma, see epidemiology, 449 thyroid angiosarcoma, 560–2 clinical manifestations, 16–24 papillary thyroid genotype–phenotype differential diagnosis, 561–2 CT and MRI, 149–55 carcinoma, cytopathology correlations, 455–6 histopathology, 560–1 diffuse, see also goiter parathyroid tissue, 219–20 histopathology, 451–3 thyroid aplasia, 408 CT and MRI, 149 poorly differentiated imaging, 449 thyroid cancer ultrasonography, 117–19 carcinoma, 227, 497 immunohistochemistry, 18F-FDG PET imaging, 209–10 experimental studies, 274–5 suspicious for malignancy, 21, 453–4 anaplastic, see anaplastic hepatic changes, 757 221–8 macroscopic appearance, thyroid carcinoma laboratory investigation, 96–9 worrisome histological 442–51 biochemical testing, 98–9 dynamic tests, 98 alterations following, see malignant transformation, clinical presentation, 21–4 interpretation, 96–7 WHAFFT 463–76 CT and MRI, 152–5 serological tests, 97–8 thyroid follicles, 400 management, 457 cytological assessment, 19–20 malignant, see thyroid cancer crushed, 519 pathogenesis, 449–50 dyshormonogenetic goiter- nodular, see thyroid nodules thyroid follicular (epithelial) precursor lesions, 450–1 related, 430–558 non-thyroidal illness, 97 cells, 400 cytopathology, see thyroid FNA experimental studies, 274–5 skin manifestations, 952–7 electron microscopy, 401 invasive growth, see invasive extrathyroidal extension, ultrasonography, 117–26 see immunohistochemistry, 258, growth 470–3 also 401 malignant, 460–502 familial non-medullary hyperparathyroidism; TSH-mediated cell signaling, nuclear features, 474–6 thyroid carcinoma, 62–8, hypoparathyroidism 449–69 poorly differentiated, see 461–2 thyroid dysgenesis, 408 thyroid follicular adenoma, poorly differentiated indications for histopathology, thyroid epithelium 448–57 thyroid carcinoma 126 cells, 400 atypical, 453 undifferentiated, see intraoperative consultations, FNA appearances clear cell, 453 anaplastic thyroid 248–9 cytoarchitecture, 223 clinical presentation, 18, 449 carcinoma invasive growth, see invasive loose aggregates with cytopathology, 221 well differentiated, see growth transgressing vessels, epidemiology, 449–534 well-differentiated medullary, see medullary 223–4 fetal, 453 thyroid carcinoma thyroid carcinoma microfollicular architecture, gross examination, 405, 451 reactive changes, 434–41 metastatic nodal disease, 405, 224 histopathology, 451–3 ancillary tools, 440 470–571 monolayered sheets, 223 hyalinizing trabecular, see cyto-histopathology, 435–40 microscopic examination, 252 papillary structures, 224–39 hyalinizing trabecular differential diagnosis, 440–1 molecular pathogenesis, 463–5 syncytial aggregates, 223 tumor, thyroid gross examination, 435–74 nodules at high risk for, 19, 29 immunohistochemistry, 258 imaging, 449 pathogenesis, 434 poorly differentiated, see thyroid FNA, 221–8, 407 malignant transformation, texture, 467 poorly differentiated anaplastic carcinoma, 227–8, 463 thyroid follicular tumors thyroid carcinoma 500–23 management, 457–534 classification issues, 467 radiation-induced, 422, 462–3 atypia (or follicular lesion) of oncocytic, 453–4 CT and MRI, 152–4 struma ovarii-related, 411 undetermined pathogenesis, 449–50 cytological assessment, 21, synoptic reporting, 571 significance, 20–1, 221 RAS mutations and PAX8– 224, 226 thyroglossal duct cyst- benign, 20, 221–8 PPARG rearrangements, microscopic examination, 252 associated, 408 Bethesda reporting system, 450–96 see also specific types ultrasonography, 122–6 221, 406–61 signet-ring cell, 453 thyroid follicular nodular disease undifferentiated, see anaplastic clinical evaluation of results, ultrasonography, 121 (nodular hyperplasia), thyroid carcinoma 19–20 WHO classification, 451 448–534 well-differentiated, see well- cytopathological evaluation, with bizarre nuclei, 453 clinical presentation, 18, 449 differentiated thyroid 221–5, 451–2 with papillary architecture, complex, 448, 451 carcinoma background elements, 222–4 441–55 differential diagnosis, 456–7 whole body radioiodine epithelial cytoarchitecture, thyroid follicular dendritic cell endemic goiter, 425–6 imaging, 196–201 223 tumor, 566–7 epidemiology, 449–534 thyroid cell lines, 273 nuclear features of papillary thyroid follicular epithelial gross examination, 405 thyroid cysts, 250 thyroid carcinoma, 225 dysplasia, 441–6 histopathology, 451–4 hemorrhagic, 434, 437 sample adequacy, 221 ancillary tools, 442–5 imaging, 449

1072

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malignant transformation, papillary (papillary adenoma), endemic goiter, 425 medullary thyroid carcinoma, 463, 476–540 453, 455 FNA, see thyroid FNA 525 management, 457–534 terminology, 451 hyperplastic, see thyroid Merkel cell carcinoma, 237, pathogenesis, 449–50 thyroid hypoplasia, 408 follicular nodular disease 893 ultrasonography, 120 thyroid inferno, Graves disease, incidental, on 18F-FDG PET, pituicytes, 325–6 thyroid function tests, 96–7 119 210 pituicytoma, 363 cirrhosis-related changes, 763 thyroid lymphoma, 557–60 infarcted, 438–40 pulmonary carcinoid, 229, 795 thyroid gland, 398–571, see also CT and MRI, 155 intraoperative consultations, pulmonary large cell thyroid tissue cytopathology, 227–8, 558 248 neuroendocrine anatomy, 398–401 differential diagnosis, 559 malignant, 460–502, see also carcinoma, 799 black, 423 gross examination, 407, 442–558 thyroid cancer pulmonary neuroendocrine C cells, see C cells Hashimoto thyroiditis-related, suspicious/risk factors, 19, cells, 778 clinicopathological disorders, 118–19, 558 29 pulmonary neuroendocrine 408–571 histopathology, 558–9 ultrasonographic features, lesions, 780 congenital abnormalities, 117, ultrasonography, 125 122–3 pulmonary small cell 197, 408–9 thyroid metastases, 568–71 margins and contours, 122–3 carcinoma, 230, 802–3, crystal deposits, 411 cytopathology, 228, 495–569 marked hypoechogenicity, 812 CT and MRI, 148–55 differential diagnosis, 527, 122–3 small cell carcinoma of breast, developmental lesions, 408–11 569–71 molecular testing, 494–5 861 drug-induced changes, 422–3 epidemiology, 568 obsolete, 440 thymic carcinoma, 811 embryology, 398–9 gross examination, 406, 569 parasitic, 408–9 thyroid follicular epithelial examination techniques, immunohistochemistry, 569–70 radionuclide imaging, 197, proliferations, 453–4 404–6 ultrasonography, 125, 560–8 449 tumors of unknown primary, FNA, see thyroid FNA thyroid neoplasms, 448–571 reactive changes, 434–41 1029–42 gross anatomy, 398 gross examination, 406–7 ancillary tools, 440 well-differentiated thyroid gross examination, 404–7 microscopic examination, 252 cyto-histopathology, 435–40 carcinoma, 491, 495 histochemistry, 401 neuroendocrine, 553 differential diagnosis, 440–1 thyroidectomy histology, 400–1 secondary, 568–71, see also gross examination, 435–74 intraoperative consultations, immunohistochemistry, 401 thyroid metastases pathogenesis, 434 248–9 infections, 416–17 synoptic reporting, 571 satellite/surface, 451, 472, 495 prophylactic, 406, 528 intraoperative consultations, with spindle cells, 562–3 solid, 122 specimens 248–9 with thymus-like features, 547 taller-than-wide shape, 122–3 cells, 323–4, 333–4, 350 microscopic anatomy, 400–1 see also thyroid cancer; ultrasonography, 119–21, examination and processing, normal, 398–402 thyroid follicular 449–534 404–7 physiology, 401–2 neoplasms; thyroid vascularity, 123, 425 see also involved resection margins, pigment deposition, 422–3 nodules; specific tumor thyroid follicular 473 pseudocapsule, 470–3 types epithelial proliferations thyroiditis, 413–19 pyramidal lobe, 398–9 thyroid nodular hyperplasia, see thyroid paraganglioma, 552–5 acute suppurative, 417 radiation-induced changes, thyroid follicular nodular cyto-histopathology, 553–4 CT and MRI, 151–2 422 disease differential diagnosis, 553 ultrasonography, 117 radionuclide imaging, 196–201 thyroid nodules, 19–20 genotype–phenotype chronic (autoimmune) ultrasonography, 111, 117–26 adenomatoid, see thyroid correlations, 553–5 lymphocytic, see ultrastructural anatomy, follicular nodular immunohistochemistry, 553–4 Hashimoto thyroiditis 401–537 disease thyroid peripheral nerve sheath classification, 413 woody, 418 benign, 448–57 tumor, 564 extension to lymph nodes, 571 thyroid hormone receptors, malignant transformation, thyroid plasmacytoma, 557–60 fibrosing, 415–16, 442 bone, 1020 463–540 thyroid smooth muscle tumor, focal lymphocytic, 418 thyroid hormones, 96, 401–2 calcifications 562–4 fungal, 417 biochemical testing, 96–7 suspicious for malignancy, thyroid solitary fibrous tumor, granulomatous, 223, 417–19 cardiovascular effects, 960–3 122 565–6 Hashimoto, see Hashimoto inborn errors of synthesis ultrasonography, 121–2 thyroid teratoma, 564–5 thyroiditis (dyshormonogenesis), Carney complex, 63 thyroid tissue, see also struma infectious, 416–17 197, 408, 429–31 clonality, 451 ovarii invasive fibrous, see Riedel skeletal effects, 1020 colloid, 121, 222–3 at sites of prior surgery, 409 thyroiditis synthesis and release, 401–2 CT and MRI, 152 ectopic, 197, 409 palpation, 419 thyroid hormone-uptake assays, cystic intraoperative consultations, postpartum, 77, 416 97 cystic papillary carcinoma, 247–8 Riedel, see Riedel thyroiditis thyroid hyperplasia, see also 485 lingual, 409 silent (painless), 118, 418 thyroid follicular hemorrhagic, 434, 437 thyroid transcription factor-1 subacute (de Quervain), see epithelial hyperplasia signs of malignancy, 465 (TTF-1) subacute thyroiditis diffuse, 451 ultrasonography, 120 DIPNECH, 784–90 ultrasonography, 117–19 gross examination, 405 cystic degeneration pulmonary large cell thyroid-stimulating hormone ultrasonography, 117 reactive cytological atypia, neuroendocrine (TSH, thyrotropin) nodular, see thyroid follicular 437, 440 carcinoma, 799, 803 fetal secretion, 398 nodular disease ultrasonography, 120–1 lineage infidelity, 1029 human chorionic, 875, 879

1073

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Index

thyroid-stimulating hormone transcription factors T-uptake assays, 97 vascular endothelial cells, 985 (TSH, thyrotropin) (cont.) adenohypophysial cell types, Turcot syndrome, 66 reactive proliferations, thyroid hyperthyroid-induced bone 336 Turner syndrome, 839 nodules, 437–8, 441 loss, 1020 adenohypophysial cells, 318 tympanic paragangliomas, see vascular endothelial growth pituitary adenoma-induced tumors of unknown primary, jugulotympanic factor receptor 1, soluble, excess, 350–1 1028–40 paraganglioma 877, 882 secreting cells, 322–4 transforming growth factor-α tyrosine hydroxylase, 633 vascular invasion serum, 96–7 (TGF-α), hypothalamic normal adrenal medulla, 632 adrenocortical carcinoma, signaling, 449–69 hamartoma, 290 parasympathetic 614–22 thyroid-stimulating hormone transforming growth factor-β paraganglioma, 654–5 thyroid carcinoma, 469–98 receptors, 449–69, 1020 (TGF-β) pheochromocytoma, 645 reactive changes mimicking, antibodies, 97–8 obesity-related radiopharmaceuticals 437–8, 441 thyroid-stimulating glomerulopathy, 822 targeting, 204–5 vascular pathology immunoglobulins, 97–8 papillary thyroid carcinoma, thyroid paraganglioma, 553 diabetes mellitus, 969–70 thyroperoxidase (TPO), 96, 494–9 tumors of unknown primary, diabetic nephropathy, 826–7 401–2 superfamily peptides, 1034–5 vascular structures, FNA samples autoantibodies, 97 placental, 881 tyrosine-protein endocrine neoplasms, 216 thyrotoxic cardiomyopathy, 963 transfusion-associated phosphatase non- pancreatic neuroendocrine thyrotoxicosis, 17–19, see also hemosiderosis, 423 receptor type 1, 1007 tumor, 234 hyperthyroidism transgenic mice, 272 parathyroid tissue, 220 amiodarine-induced, 422 transient abnormal ultimobranchial body, 398 vascular tumor, sellar region, causes, 17–18 myelopoiesis, Down remnants, see solid cell nests, 367–8 clinical presentation, 18–19, 21 syndrome, 768 thyroid vascularity thyrotroph adenoma, 336, 350–1 transient elastography ultrasonography, 109, 111–13 Graves disease, 119 clinical presentation, 350 (FibroScan), 763–4 abdominal disease, 168–89 parathyroid tissue, 219 management, 351 transitional cells, parathyroid, advantages and disadvantages, pulmonary neuroendocrine microscopic features, 350–1 573 113 tumor, 229 silent, 355 transsphenoidal pituitary contrast enhanced, 113 thyroid nodules, 123, 425 thyrotroph embryonic factor, 318 surgery, 326, 345 head-and-neck disease, 117–28 vasculature thyrotrophs, 322 TRH, see thyrotropin-releasing real-time gray scale, 111 adipose tissue surrounding, 982 differentiation, 318 hormone ultraviolet exposure, Merkel cell development, 980–1 hyperplasia, 333–4 trichrome stains, liver, 746 carcinoma risk, 917 histology, 982–3 localization, 317 triiodothyronine (T3), 96 umbilical cord, 871 ultrastructure, 985 untreated primary cardiovascular effects, 962–3 undifferentiated thyroid vasculogenesis, 980–1 hypothyroidism, see free, 96–7 carcinoma, see anaplastic vasculosyncytial membrane, thyroidectomy cells reverse, 97 thyroid carcinoma placental, 868–72 thyrotropin, see thyroid- skeletal effects, 1020 unknown primary site, tumors vasoactive intestinal peptide stimulating hormone synthesis and release, 401–2 of, see metastatic tumors composite thyrotropin-binding inhibitory trisomy 21 mosaicism, liver of unknown primary site pheochromocytoma/ immunoglobulins, 97–8 disease, 768 urinary bladder paragangliomas, paraganglioma, 657–8 thyrotropin-releasing hormone, triton X-100, 256 see bladder hypothalamic secretion, 286 285–6 trophoblast paragangliomas placental, 876, 880–1 stimulation test, 94, 98, 353 development, 868–9 urine specimens, 89 plasma measurement, 105 thyrotroph hyperplasia, 334 extravillous, 872 urocortins, 875, 879 secreting tumor, see VIPoma thyroxine (T4), 96 invasion of maternal spiral urogenital tract, embryology, vasopressin, see antidiuretic fetal secretion, 398 arteries, 868–72 834–5 hormone free, 93, 96–7 villous, 871–2 urticaria, autoimmune thyroid VE1 antibodies, 259, 493 inborn errors of synthesis, 408 true hermaphrodites, 839 disease, 954, 956 velocardiofacial syndrome, 574 skeletal effects, 1020 TSH, see thyroid-stimulating uterine cervix, see cervix, uterine ventromedial nucleus, synthesis and release, 401–2 hormone uterine corpus, neuroendocrine hypothalamus, 284–6 thyroxine-binding globulin, 97 TSHR mutations, 450 tumor, 896 Verner–Morrison syndrome, 29, tissue harmonic imaging, 111 TTF-1, see thyroid transcription uterus, 892 31, 105, 728 TMEM127 mutations, 59, 649 factor-1 VHL mutations, 35, 56, 647 TMPRSS2–ERG fusion, 847–8 tuberculosis, see also vagal paraganglioma, 652 pheochromocytoma, 641, Toll-like receptor 4 (TLR4), mycobacterial infections clinical features, 653 647 obesity-related insulin adrenal, 594–5 macroscopic appearance, somatostatinoma, 695 resistance, 74 hypothalamic–pituitary 653 villin, 922 TP53 defects, see also p53 dysfunction, 290–1 malignancy, 664 VIP, see vasoactive intestinal Li-Fraumeni syndrome, 66 tuberous sclerosis, 66 vagina peptide parathyroid tumor, 574 tubular neuroendocrine tumor, anatomy, 892 VIP cells, 677 pulmonary large cell appendiceal, 704–5, neuroendocrine carcinoma, VIPoma, 726 neuroendocrine 707–8 893–4 clinical presentation, 29, 31, carcinoma, 800 tumor necrosis factor-α (TNF-α), vandetanib, medullary thyroid 728 T-pit, 318, 1032–3, 1035 74, 1018 cancer, 61 imaging, 170 trachea, imaging anatomy, 161–2 tunica albuginea, 834, 836 vanillylmandelic acid, 101 laboratory investigation, 105

1074

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Index

viral infections von Recklinghausen disease, see genotype–phenotype Wolman disease, 596 adrenal, 594 neurofibromatosis type 1 correlations, 489–90 women subacute thyroiditis etiology, vulva Graves disease and, 119, 463 androgen excess, 28 417 anatomy, 892 histochemistry, 494 endocrine effects of cirrhosis, thyroid, 417 neuroendocrine lesions, 893 histological variants, 476–89 763 thyroid carcinoma histopathology, 467–89 gonadotroph adenoma, 351, pathogenesis, 463 water deprivation test, 15, 96 imaging, 199, 209, 403–61 353 virilization syndrome, 28, 603–4, Waterhouse–Friderichsen immunohistochemistry, 457–94 hypogonadism, see female 614 syndrome, 595 macroscopic appearance, hypogonadism visceral adipose tissue, 982 Weiss score, adrenocortical 429–67 prolactinoma, 8, 345 see also obesity-related inflammation, tumor, 614–17 molecular pathogenesis, female 74–5 well-differentiated 442–63 woody thyroid, 418 visual field defects, 1–2, 7 neuroendocrine tumor molecular tests, 494–5 worrisome histological vitamin D (carcinoid) oncocytic change, see alterations following deficiency, 102–3, 1013–4 cutaneous metastases, 915 oncocytic thyroid FNA of thyroid, see FGF23-mediated regulation, gastrointestinal, 678 carcinoma WHAFFT 1005–9 grading, 678–9 pathogenesis, 461–5 parathyroid effects, 1009 macroscopic appearance RAS-like tumor, 490 xanthoma disseminatum, regulation of calcium, 102 and histopathology, synoptic reporting, 470–571 936, 945 thyroid cancer progression 680–1 thyroglobulin monitoring, 98 xanthoma, eruptive, 944, 955 and, 275 ovarian, 410, 897 treatment and prognosis, 496 xanthomatous hypophysitis, 15, vitamin D receptor prostate, 852 see also follicular thyroid 148, 329–30 knockout mice, 275 pulmonary, see pulmonary carcinoma; papillary xenin, 1035–6 loss-of-function mutations, carcinoid thyroid carcinoma xenograft mouse models, 272, 1014 small bowel, see small bowel Wermer syndrome, see multiple 274 parathyroid disease, 574 neuroendocrine tumor endocrine neoplasia 1 vitamin D-dependent rickets, thymus, 805–9 Werner syndrome, thyroid yellow nails and skin, diabetes 103 unknown primary site, 1037 carcinoma, 462–567 mellitus, 946 type 1, 1014 algorithmic approach, wet keratin, 294, 296, 359 yolk sac (endodermal sinus) type II, 1014 1036–8 WHAFFT (worrisome tumor vitiligo hormones and receptors, histological alterations pineal, 135, 308 diabetes mellitus, 946 1035–6 following FNA of testicular, 837 Graves disease, 953–4 structural markers, 1033–4 thyroid), 434–569 polyglandular autoimmune transcription factors, Whipple triad, 30 zebrafish, 272 syndrome type 1, 938–9 1028–38 whole-body radioiodine imaging, zellballen, 630 von Hippel–Lindau disease, 56–8 uterine cervix, 894 see iodine isotope whole parasympathetic clinical presentation, 35, 57–8 well-differentiated thyroid body scanning paraganglioma, 654 gallbladder and biliary tract carcinoma, 460–96 Wilson disease, 747 pheochromocytoma, 641, neuroendocrine tumors, benign nodules transforming Wnt/β-catenin signaling 643 709–10 to, 476–540 pathway Zollinger–Ellison syndrome, molecular genetics, 56–7 BRAF-like tumor, 489–90 adrenocortical tumor, 62–3, 608 29, 30, 692, 728 ovarian steroid cell tumor, 904 classification, 467, 490 duodenal gastrinoma, 695 ECL cell hyperplasia, 685 pheochromocytoma, 34–5, 57, clinical presentation, 18, 21–2, glucocorticoid actions, 1019 ovarian tumor, 907 641, 644, 646–7 461 Wolffian ducts, 835, 892 zona fasciculata, 589 subtypes, 647 differential diagnosis, 495–6 Wolff law of bone, 993 zona glomerulosa, 589 surveillance protocol, 58 environmental factors, 462–3 Wolfram syndrome 1 (diabetes aldosterone secretion, 606–7 von Recklinghausen bone epidemiology, 460–1 insipidus, diabetes hyperplasia, adrenocortical disease, see brown tumor genetic predisposition, 62, mellitus, optic atrophy, adenoma, 611 of hyperparathyroidism 461–567 and deafness), 287 zona reticularis, 589

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