Abscess Central Nervous System 465 Periprostatic 322 ACDMPV See

Home , Caroli disease, Nephronophthisis, Pinealoblastoma, Salivary gland atresia, Sialoblastoma

Cambridge University Press 978-1-107-43080-8 - Essentials of Surgical Pediatric Pathology Edited by Marta C. Cohen and Irene Scheimberg Index More information

Index

abscess medullary tumors 212–18 arbovirus encephalitis 465 central nervous system 465 neuroblastoma–ganglioneuroma arteriovenous hemangioma 418 periprostatic 322 spectrum 214–18 arteriovenous malformations 25, 418 ACDMPV see alveolar capillary pheochromocytoma 212–14 Aspergillus spp., nasal infection 130 dysplasia with misalignment myelolipoma 218 astroblastoma 446 of pulmonary veins small round-cell tumors 477 astrocytoma acinar cell carcinoma 117–18 adrenal rests 319 anaplastic 442, 443 acinar dysplasia 175, 176 adult granulosa cell tumor 307–8 desmoplastic infantile 446 acinic cell carcinoma 157 aggressive (deep) angiomyxoma 311 diffuse 441–2, 443 acne 1 Alagille syndrome 92, 101 pilocytic 440–1 acromegaly 200 ALCL see anaplastic large T-cell pilomyxoid 441 acute infectious colitis 71–2 lymphoma ataxia telangiectasia 248–9 acute myeloid leukemia 255–9 allele-specific oligonucleotides 481, 485 atopic dermatitis 1–2 classification 255, 257, 258 allergic dermatitis 1 atrophic gastritis 50 clinical presentation 256 alpha-1 antitrypsin deficiency 92, 94, atypical spitzoid neoplasms (ASN) 13 in Down syndrome 260–1 96, 98 atypical teratoid/malignant rhabdoid genetics 258–9 Alport syndrome 352 tumor 451–2 histology 256 alveolar capillary dysplasia with autoimmune gastritis 49–50 acute promyelocytic misalignment of pulmonary autoimmune hepatitis 103 leukemia 259 veins (ACDMPV) 176–7 autoimmune/immunodeficiency adamantinoma 419–20 alveolar dysplasia, congenital 175–6 associated enteropathies 58 adamantinomatous alveolar rhabdomyosarcoma 360 autoimmune lymphoproliferative craniopharyngioma 455 genetics 354–5, 472 syndrome (ALPS) 232–3 adenoid cystic carcinoma 157–8 alveolar soft part sarcoma 354–5, autosomal dominant polycystic kidney cribriform 158 379, 380 (ADPK) disease 97–8, 284 solid (basaloid) 158 genetics 354–5 autosomal recessive polycystic kidney tubular 158 amegakaryocytic thrombocytopenia 264 (ARPK) disease 284 adenoma anaplastic astrocytoma 442, 443 parathyroid 208–9 anaplastic large T-cell lymphoma balanitis xerotica obliterans 323 pituitary 200, 455–6 (ALCL) 30, 32, 238–9 Bannayan–Riley–Ruvalcaba thyroid 205 small cell variant 239, 476 syndrome 64 adenomatoid tumor 320 anaplastic oligo-astrocytoma 444 Barrett’s esophagus 47 adenomatous polyposis coli 352 anaplastic oligodendroglioma 444 Bartholin gland cyst 310 adenomatous polyps of small androgen insensitivity syndrome 325–6 Bartonella henselae 232 bowel 65 aneurysmal bone cyst 420–2 basal cell carcinoma 29 adenomyomatous polyps of small angiocentric glioma 446 histology 30 bowel 65 angiomatoid fibrous histiocytoma 377 predisposing factors 29 adipocytic tumors 373–4 extraskeletal mesenchymal 354–5 ”basket weave” orthokeratosis 4 adrenal glands 210–18 angiomyxoma B-cell lymphoma 228–30 congenital disorders 210–11 aggressive (deep) 311 B-lymphoma 238, 254, 256 agenesis 211 superficial 311 diffuse large B-cell lymphoma 242–3 cystic structures 211 angiosarcoma 23, 352, 419 mature B-cell lymphoma 241–3 ectopic cortical nodules 210 bone 418–19 Becker muscular dystrophy 464 hyperplasia 210, 211 cutaneous 23 Becker’s nevus 26 testicular adrenal rest tumors epithelioid 419 Beckwith–Wiedemann (TARTS) 210 anophthalmia-esophageal-genital syndrome 352 cortical tumors 211–12 syndrome 44 adrenal hyperplasia 210 Cushing syndrome 212 antrochoanal polyps 131–2 islet cell hypertrophy 218 498 virilizing 211, 212 aplastic anemia 265 Wilms’ tumor 286 fusion 210 apocrine nevus 26 benign fibrous histiocytoma 368

© in this web service Cambridge University Press www.cambridge.org Cambridge University Press 978-1-107-43080-8 - Essentials of Surgical Pediatric Pathology Edited by Marta C. Cohen and Irene Scheimberg Index More information

Index

bile duct disorders osteogenic 403–10 second branchial cleft 145–6 Alagille syndrome 101 resection specimens 409–10 third/fourth branchial cleft 146 Caroli’s disease 97 small round-cell tumors 475–6 branchial pouch anomalies 201 choledochal cyst 100 Erdheim–Chester disease 425 break apart probes 489, 491 congenital hepatic fibrosis 97 fibrous dysplasia 422–3 breast 333–4 development 90, 91 fractures carcinoma 345–6 ductal plate malformation 97 callus 426 secretory 345 isolated hepatic polycystic disease 98 stress fracture 426, 427 epithelial lesions 340–3 non-syndromic bile duct paucity 101 Langerhans-cell histiocytosis 423–5 atypical ductal hyperplasia 341–2 spontaneous performation of myogenic, myopericytic, gynecomastia 334, 342–3 common bile duct 101 lipogenic and epithelial macromastia 343 biliary atresia 92 tumors 419–20 nipple duct adenoma 341 extrahepatic 92, 98–100 adamantinoma 419–20 proliferative disease without intrahepatic bile duct pacity 101 myofibroma/myofibromatosis 419 atypia 336, 340–1 liver transplant patients 110 osteofibrous dysplasia 423 fibroepithelial lesions 333–40, 341 neonatal sclerosing cholangitis 101 osteomyelitis fibroadenoma 333–7 biliary system infectious 427–8 hamartoma 336, 340 pathology 97, 99 non-infectious 428 lactating adenoma see nodular see also hepatobiliary system pseudarthrosis 427 gestational hyperplasia biopsy Rosai–Dorfman disease 425 nodular gestational hyperplasia duodenum 60 vascular lesions 416 334, 337 kidney 287 arteriovenous hemangioma/ phyllodes tumor 334, 336, 337–40 liver 92–3 malformation 418 hematopoietic neoplasms 346 rectal suction 68–70 capillary hemangioma 416 metastases 346 skin 261 epithelioid stromal lesions 343–5 bizarre parosteal osteochondromatous hemangioendothelioma 418 fibromatosis 344 proliferation (BPOP) 400 epithelioid hemangioma 417 pseudoangiomatous stromal bladder 295–6 Gorham disease 417 hyperplasia 336, 343–4 cystitis 295 hemangioendothelioma 418 see also other stromal lesions developmental anomalies 295 lymphangioma/lymphatic bronchogenic cyst 171–2 diverticulum 295 malformation 417 Brucella spp. 232 tumors 295–6 venous hemangioma/venous Bullough lesion 404, 405 embryonal rhabdomyosarcoma malformation 416–17 bullous dermatitis 5–6 296 bone marrow failure 263–5 linear IgA disease of childhood 5–6 epithelial (urothelial) 296 aplastic anemia 265 bullous pemphigoid 5–6 blastic plasmacytoid dendritic cell inherited syndromes 263, 264 Burkholderia cepacia 186 neoplasm 262–3 refractory cytopenia of childhood Burkitt lymphoma 66, 241–2 Bloom syndrome 286, 352 263–5 ovary 309 blueberry muffin baby 34–5, 261 bone marrow pathology 253–65 blue nevus 14–15 acute myeloid leukemia 255–9 calcifying aponeurotic fibroma 363–4 B-lymphoblastic leukemia/lymphoma blastic plasmacytoid dendritic cell calcifying fibrous tumor 362 238 neoplasm 262–3 canal of Nuck, cyst of 311 characteristics 254 congenital acute leukemia with Candida albicans, esophagitis 44 prognostic factors 256 spontaneous remission capillary hemangioma 416 bone island 404, 405 261–2 capillary malformation 23–4 bone lesions 397–428 juvenile myelomonocytic leukemia carcinoid/neuroendocrine tumors benign 416–19 262 liver 110 bone cysts myeloid proliferations in Down metastatic 318 aneurysmal 420–2 syndrome 260–1 pancreas 118 simple 422 myeloid sarcoma 259–60 small bowel 65, 66 bone tumors 397–416 precursor B-lymphoid neoplasms carcinoma showing thymus-like angiosarcoma 418–19 253–5 differentiation (CASTLE) 148 chondrogenic 397–403 therapy-related myeloid neoplasms Carney complex Ewing’s sarcoma/PNET 313, 352, 258, 260 adrenal involvement 211 354–5, 375–6, 412–13 Borrelia burgdorferi 232, 433 breast involvement 333 fibrogenic 410–11 botryoid embryonal pituitary involvement 200 fibrohistiocytic 411 rhabdomyosarcoma 359 Caroli’s disease 97 hematopoietic 413 brain–thyroid–lung syndrome 184 cartilaginous tumors 374–5 notochordal 414–16 branchial arch anomalies 144–6 Castleman’s disease 234 osteoclastic giant-cell-rich 413–14 first branchial cleft 145 cat scratch disease 232 499

Index

caustic esophagitis 46 unusual/rare gliomas 445, 446 Crohn’s disease 51, 75–8 celiac disease 59–61 see also individual tumors indeterminate colitis 78 cellular fibrous histiocytoma 368 cerebrovascular disorders 462 ulcerative colitis 73–5 central core disease 464 cervical neoplasms polyps/tumors 78–9 central giant-cell granuloma 141 clear cell adenocarcinoma 312–13 malignant tumors 79 central giant-cell tumor 413–14 embryonal rhabdomyosarcoma neurofibromatosis 1 79 central nervous system infection/ 311–12 polyps and polyposis syndromes inflammation 465–7 CGH–SNP microarrays 493–4 78–9 abscess 465 channelopathies 220 stromal polyps 79 atypical viral infections 466 CHARGE syndrome 44 pseudo-obstruction 67–71 fungal infection 466 chemical gastropathy 50 Hirschsprung’s disease 68–70 opportunistic infections 466 childhood asymmetric labium majus intestinal hypoganglionosis 70 viral infection 466 enlargement (CALME) 311 intestinal neuronal dysplasia 70 central nervous system tumors 438–54, choledochal cyst 100 visceral myopathies 71 460 cholestasis, neonatal 92 colorectal adenocarcinoma 79 astrocytic 440–4 cholesteatoma 128–9 combined immunodeficiency in anaplastic astrocytoma 442, 443 cholesterol granuloma 129 chromosomal breakage brainstem glioma 443 chondroblastic osteosarcoma 409 syndrome see Nijmegen diffuse astrocytoma 441–2, 443 chondroblastoma 401–2 breakage syndrome glioblastoma 442–3 chondrocutaneous remnants 146 common acquired melanocytic nevus gliomatosis cerebri 443 chondrogenic tumors 397–403 (CAMN) 12 pilocytic astrocytoma 440–1 see also individual tumor types common bile duct, squamous pilomyxoid astrocytoma 441 chondromesenchymal hamartoma 135 perforation in infancy 101 pleomorphic xanthoastrocytoma chondromyxoid fibroma 399 common variable immunodeficiency 443–4 chondrosarcoma 402–3 (CVID) 248–9 primary leptomeningeal glioma extraskeletal mesenchymal 354–5, comparative genomic hybridization 443 374, 375, 472, 476 481, 493 choroid plexus 459 extraskeletal myxoid 354–5, 377 congenital anomalies see classification, grading and incidence chordoid glioma 446 developmental anomalies 438–9 chordoid tumors 374–5 congenital developmental anomalies clinical presentation 439–40 chordoma 374–5, 414–16 of kidney and urinary tract cranial, spinal, and peripheral nerves choriocarcinoma (CAKUT) 275–6 453–4 non-gestational 306–7 classification 275 differential diagnosis 454 testis 317 pathology and clinical presentation neurofibroma 454 choroid plexus tumors 459 275–6 schwannoma 453–4 chronic granulomatous disease 50, congenital granular cell tumor 141 embryonal 448–52 249–50 congenital hemangioma 17–18 atypical teratoid/malignant chronic lymphocytic thyroiditis 202 congenital hepatic fibrosis 97 rhabdoid tumor 451–2 chronic pneumonitis of congenital melanocytic nevi (CMN) medulloblastoma 448–50 infancy (CPI) 184 11–12 PNET see primitive cirrhosis 103 congenital pulmonary airway neuroectodermal tumor Civatte bodies 3 malformation (CPAM) 172–3 ependymal 445 clear cell adenocarcinoma of cervix and contact dermatitis 1 frozen sections 440 vagina 312–13 Cornelia de Lange syndrome 47 germ cell 458–9 clear cell sarcoma cortical dysplasia 461 immunohistochemical markers 440 genetics 354–5 Costello syndrome 218, 352 location and type 439 of kidney (CCSK) 292–3 Cowden syndrome 51, 64 mesenchymal 456–8 of tendons and aponeuroses 377 cranial fasciitis 149–50 metastatic 459, 461 cold panniculitis 8 craniopharyngioma 134, 454–5 neuronal/mixed glioneuronal colitis 71–2 adamantinomatous 455 tumors 445–8, 449 acute infectious 71–2 Crohn’s disease 51, 75–8 oligodendroglial 444–5 eosinophilic 71 colorectal/anal 76 mixed/anaplastic indeterminate 78 gastritis 51 oligo-astrocytoma 444 microscopic 72 histology 76–7 oligodendroglioma and anaplastic neutropenic (thyplitis) 72 macroscopy 76 oligodendroglioma 444 ulcerative see ulcerative colitis sites and patterns of pineal region 452–3 collision tumors of pituitary 200 involvement 75–6 sellar/suprasellar 454–6 colon 67–79 upper alimentary tract involvement craniopharyngioma 454–5 congenital malformations 67 77–8 500 pituitary adenoma 455–6 inflammatory bowel disease 72–8 cryptorchidism 314

Index

Cushing syndrome 211 cytomegalovirus diffuse neurofibroma 370 adrenal cortical tumors 212 esophagitis 44 DiGeorge syndrome 201 cutaneous angiosarcoma 23 gastritis 49 disorders of sexual development see sex cystadenoma 153–4 liver failure 102–3 development disorders cystic dysplasia 313–14 DNA microarrays 481, 492–4 cystic fibrosis 94, 113, 186–7 Dabska tumor see papillary DNA purification 483–5 clinical presentation 186 intralymphatic restriction enzymes 484–5 differential diagnosis 187 angioendothelioma transfer to membrane 485 hereditary/genetic features 186 Darier’s sign 33 Donohue syndrome 218 histology 186 degenerative joint disease 432 dot-blotting 481, 485, 486 macroscopy 186 dental follicles 139 ASO-dot blot 485 cystic nephroma 290–1 dental lamina cysts 140 Down syndrome cystitis 295 dentigerous cyst 138–9 acute myeloid leukemia 260–1 eosinophilic 295 Denys–Drash syndrome 286, 323 myeloid proliferations 260–1 infectious 295 dermal melanocytosis (DM) 10 Duchenne muscular dystrophy 464 interstitial 295 dermatofibroma 26, 368 ductal hyperplasia, atypical 341–2 cysts dermatofibrosarcoma protruberans ductal plate malformation 97 Bartholin gland 310 345, 352, 366–7 in malformation syndromes 98 bone Bednar tumor variant 367 duodenal atresia see intestinal atresia/ aneurysmal 420–2 dermatomyofibroma 25–6 stenosis simple 422 dermatomyositis 463, 464 duodenal biopsy 60 breast 334 dermatophytosis 1 duplication cysts 55–6 bronchogenic 171–2 dermoid cysts 27 foregut 55, 148 choledochal 100 neck 148 dysembryoplastic neuroepithelial dermoid 27 pituitary gland 199 tumor 447 neck 148 desmoid-type fibromatosis 365, 366 dysferlinopathy 464 pituitary gland 199 desmoplastic fibroma 410–11 dysgerminoma 303, 304 duplication 55–6 desmoplastic infantile dyshidrotic dermatitis 1 foregut 148 astrocytoma 446 dyshormonogenic goiter 203 epidermoid desmoplastic small round cell tumor dyskeratosis congenita 264 pituitary gland 199 321–2, 376–7, 476 dysplastic cerebellar gangliocytoma 449 testis 316 genetics 354–5, 472 epididymis 319 desquamative interstitial pneumonia ear 127–9 ganglion 428–9 (DIP) 184 external 127 jaw 138–40 developmental anomalies inner 129 developmental odontogenic adrenal glands 210–11 middle 127–9 138–40 bladder 295 cholesteatoma 128–9 inflammatory odontogenic 138 colon 67 cholesterol granuloma 129 keratocystic odontogenic esophagus 43–4 inflammatory aural polyp 129 tumors 140 kidney 275–6 otitis media 127–8 non-odontogenic 140 lung 171–5 salivary gland choristoma 129 orthokeratinized odontogenic 140 ovary 302 eccrine nevus 26 lymphoepithelial 202 reproductive system echinococcosis 103 midline nasopharyngeal 133 female 309 ectomesenchymoma 361, 460 Müllerian 310, 322 male 313–14, 319, 322 embryonal carcinoma nasolabial 133 salivary glands 150 ovary 306 nasopalatine duct 140–1 small bowel 53–6 polyembryoma 306 ovary 302 stomach 47–8 testis 316 palatal 140 Diamond–Blackfan anemia 264 embryonal rhabdomyosarcoma 160, pancreatic 113 diarrhea 56–9 359, 360 parathyroid 147–8 autoimmune/immunodeficiency bladder 296 Rathke’s pouch 199 associated enteropathies 58 botryoid 359 synovial 429 microvillous inclusion disease 57 skeletal muscle 359, 473 thymic 147 neuroendocrine cell dysgenesis 56 vagina and cervix 311–12 thymopharyngeal duct 147 protracted of infancy 56–9 emperipolesis 130 thyroglossal duct 144, 201 trichohepatoenteric syndrome 58 enchondroma 397–9 vulva tufting enteropathy 58 endocrine system 198–227 canal of Nuck 311 diffuse astrocytoma 441–2, 443 adrenal glands 210–18 Gartner duct 310 diffuse large B-cell lymphoma pancreas 218–20 mucous 310 (DLBCL) 242–3 parathyroid glands 207–10 501

Index

endocrine system (cont.) lymphocytic 46 fibroma pituitary gland 198 non-infectious 44–5 calcifying aponeurotic 363–4 thyroid gland 201–7 esophagus 43–7 chondromyxoid 399 endodermal sinus tumor 159 Barrett’s47 desmoplastic 410–11 Entamoeba histolytica 102 congenital malformations 43–4 juvenile nasopharyngeal 364 eosinophilic colitis 71 in inflammatory bowel disease 46 non-ossifying 411, 412 eosinophilic cystitis 295 malignancies 47 ovary 309 eosinophilic esophagitis 45–6 strictures 46 soft tissue 362 clinical features 45 esthesioneuroblastoma 137–8 fibromatosis histology 45–6 Ewing family tumors 474 breast 344 eosinophilic gastritis 50 Ewing-like sarcoma 377 desmoid-type 365, 366 eosinophilic proctitis 71 genetics 354–5 hyaline 365 ependymal tumors 445 Ewing’s sarcoma 313, 352, 375–6, inclusion-bearing 363 clinical presentation 445 412–13, 474 juvenile hyaline 365 differential diagnosis 445 clinical presentation 412 palmar/plantar 365 histology 445 differential diagnosis 413 fibromatosis colli 363 immunohistochemistry 445 genetics 354–5, 412, 472 fibromyxoid sarcoma, low-grade 368 molecular pathology 445 histology 413 fibronodular hyperplasia 109 neuroimaging 445 macroscopy 413 fibro-osseous pseudotumor of digits prognosis 445 exome 481 403–4 ependymoma 445 extraskeletal mesenchymal fibrosarcoma, infantile 366, 367 epidermal nevi 333 chondrosarcoma 374 fibrous dysplasia 422–3 epidermoid cysts genetics 354–5 fibrous hamartoma 321 pituitary gland 199 extraskeletal myxoid chondrosarcoma of infancy 363–4 testis 316 377 fibrous histiocytoma epididymis genetics 354–5 angiomatoid 354–5, 377 cysts 319 extraskeletal osseous tumors 374–5 benign 368 papillary cystadenoma 320 extraskeletal osteosarcoma 374 cellular 368 sarcoidosis 319 deep 368 epididymo-orchitis 315 factitial panniculitis 8 malignant 369 epigenome sequencing 481, fallopian tube, developmental fibrous umbilical polyp 362 495–6 anomalies 302 FISH 481, 489–90 epilepsy, refractory 459–62 familial adenomatous polyposis (FAP) break apart probes 489, 491 epispadias 322 78–9 fusion probes 489, 491 epithelioid angiosarcoma 419 familial atypical multiple mole spectral karyotyping 490 epithelioid hemangioendothelioma melanoma syndrome whole chromosome painting 490 358, 418 (FAMMMS) 15 fluorescence in-situ hybridization see epithelioid hemangioma 357, 417 familial hemophagocytic FISH epithelioid sarcoma 379, 380 lymphohistiocytosis 110 follicular adenoma 205 epithelioid tumors 353 familial pleuropulmonary blastoma 352 follicular carcinoma 205–6 alveolar soft part sarcoma 379 familial rhabdoid predisposition 352 follicular dendritic cell sarcoma 237 myoepithelioma 152–3 Fanconi’s anemia 44, 264 follicular lymphoma 243–4 perivascular (PEComa) 380 fascioliasis 102 foregut duplication cysts 148 sarcoma 352, 379 fat necrosis of breast 334 fracture callus 426 Erdheim–Chester disease 425 Feingold syndrome 44 Francella tularensis 232 erythema multiforme 1, 3–4 female reproductive system 302–13 Fraser syndrome 286 classification 4 ovary 302–9 Frasier syndrome 323 clinical presentation 4 uterus, cervix, vagina and vulva fructosemia 94 differential diagnosis 4 309–13 fundic gland polyps 51 histology 4 see also individual parts fungal infection erythema multiforme major 4 fetal lung interstitial tumor (FLIT) 190–1 central nervous system 466 esophageal atresia 43 fetal rhabdomyoma 359 nasopharyngeal 130 clinical features 43 fibroadenoma of breast 333–7 fusion probes 489, 491 complications 43 tubular variant 337 histology 43 fibroblastic-myofibroblastic tumors 365 galactosemia 94 esophageal dysmotility 43 fibroblastic tumors 361–8 gangliocytoma 447–8 esophagitis 44–6 fibroblastoma, giant-cell 366–7 dysplastic cerebellar 449 caustic 46 fibroepithelial polyp 310 ganglioglioma 446, 447–8 eosinophilic 45–6 fibrohistiocytic tumors 368–70 ganglion cyst 428–9 502 infectious 44 deep fibrous histiocytoma 368 ganglioneuroblastoma 216–17

Index

ganglioneuroma 217 glomovenous malformation 24, 358 capillary 416 Gardner fibroma 362 glomus tumor 358 congenital 17–18, 356 Gartner duct cyst 310 glucocerebrosidosis (Gaucher disease) epithelioid 357, 417 gastritis 48–51 94, 96 infantile 17, 18, 155, 356 infectious 48–9 GM1-gangliosidosis 96 larynx 142 H. heilmannii 49 goiter 202–3 salivary glands 155–6 H. pylori 48–9 dyshormonogenic 203 spindle cell 19–20, 356 Ménetrier disease 49 histology 202, 203 venous 416–17 viral 49 Goldenhar syndrome 380 verrucous 18–19 non-infectious 49–51 gonadectomy, prophylactic 325 hemochromatosis atrophic gastritis 50 gonadoblastoma 324–5 congenital 218 autoimmune gastritis 49–50 Gorham disease 417 neonatal 94, 97, 98, 113 chemical gastropathy 50 Gorlin–Goltz syndrome 352 hemophagocytic lymphohistiocytosis chronic granulomatous disease 50 granular cell tumor 371 250, 251 Crohn’s disease 51 granuloma annulare 1, 7–8 hemophilic arthropathy 432–3 eosinophilic gastritis 50 granulomatous dermatitis 7–8 hemosiderotic synovitis 432–3 lymphocytic gastritis 49 granulosa cell tumor Henoch–Schönlein purpura 1, 6–7, 49 vasculitis 49 adult 307–8 hepatitis 101–2 gastro-esophageal reflux (GER) 43, 44–5 juvenile autoimmune 103 gastrointestinal stromal tumor (GIST) ovary 307 neonatal 92, 95, 98, 101 52–3, 352, 372–3 testis 317 viral 102 gastrointestinal tract 43–89 Graves’ disease 202 hepatobiliary system 90–126 colon 67–79 gray zone lymphoma 245–6 biliary system pathology 97 esophagus 43–7 gynecomastia 334, 342–3 development 90–1 small bowel 53–67 liver see liver stomach 47–53 Haemophilus influenzae 186 metabolic disorders 93–7 Gaucher disease 94, 96 hairy polyps 132 patterns 93–5 gene expression microarrays 481, 493 halo nevus of Sutton 14 hepatoblastoma 103–4, 105, 478–9 genitourinary small round cell hamartoma hepatocellular adenoma 108–9 tumors 478 breast 336, 340 hepatocellular carcinoma 104–7 genodermatosis 1 chondromesenchymal 135 histology 107, 108 genome sequencing 481 fibrous 321 hepatocellular neoplasm 107–8 germ-cell tumors of infancy 363–4 hepatosplenic (gamma/delta) T cell central nervous system 458–9 hypothalamic neuronal 201 lymphoma 240, 241 liver 110 pancreas 118 hereditary diffuse gastric carcinoma malignant mixed 307, 317 hamartomatous polyps 51 (HDGC) 51–2 ovary see ovarian tumors Hashimoto’s thyroiditis 202 hereditary mixed polyposis syndrome testis see testicular tumors head 127–70 (HMPS) 65 germinal center 234 cranial fasciitis 149–50 herpes simplex virus (HSV) germinoma 458 developmental anomalies 143–8 esophagitis 44 Gianotti–Crosti syndrome 1 ear 127–9 gastritis 49 giant-cell fibroblastoma 366–7 lymphatic malformations 149 liver failure 102 giant-cell reparative granuloma 413–14 nose, paranasal sinuses and heterotopic central nervous system giant-cell tumor of bone 414, 415 nasopharynx 129–38 tissue 133–4 gingival cysts of newborn 140 oral lesions 138–42 clinical features 133–4 glandular odontogenic cyst 139–40 salivary glands 150–60 differential diagnosis 134 glioblastoma 442–3 small round cell tumors 473–5 histology 134 glioma 445, 446 tumors macroscopy 134 angiocentric 446 teratoma 148–9 hibernoma 373 brainstem 443 with thymic differentiation 148 Hirschsprung’s disease 68–70 chordoid 446 vascular lesions 149 intraoperative diagnosis 70 diffusely infiltrative high-grade 442–3 see also neck; and specific regions macroscopy 68 primary leptomeningeal 443 Helicobacter heilmannii 49 pullthrough (resected) specimens 70 gliomatosis cerebri 443 Helicobacter pylori 48–9 rectal suction biopsy 68–70 glioneuronal tumor 445–8 hemangioblastoma 460 treatment 68 papillary 449 hemangioendothelioma 418 histiocytoma see fibrous histiocytoma rosette-forming 449 epithelioid 358, 418 histiocytosis 33 glomangioma see glomovenous kaposiform 20–1, 155, 357 Langerhans cell 33–4 malformation hemangioma 1 HIV-associated lymphoma 252–3 glomerular disorders 283, 284, 285 arteriovenous 418 hobnail cells 313 503

Index

Hodgkin lymphoma 246–8 indeterminate colitis 78 synovial hemangioma 431 classical 247–8 ulcerative colitis 73–5 tenosynovial giant-cell tumor 429–30 classification 247 inflammatory linear verrucous epidermal tumoral calcinosis 433–4 clinical presentation 246–7 nevus (ILVEN) 26–7 vascular malformations 431 genetics 247 inflammatory myofibroblastic tumor juvenile aponeurotic fibroma 363–4 histology 247 (IMT) 366 juvenile granulosa cell tumor nodular lymphocytic predominant liver 110 ovary 307 247, 248 respiratory system 190 testis 317 pathogenesis 228–30 small bowel 65 juvenile hyaline fibromatosis 365 Human Genome Organization soft tissue 365–6 juvenile/infantile fibromatosis 365 (HUGO) 481 inflammatory myopathy 463 juvenile melanoma see Spitz nevus human papilloma virus 9 inflammatory skin diseases 1–9 juvenile myelomonocytic leukemia 262 sequencing 494 inherited bone marrow failure juvenile nasopharyngeal fibroma 364 Hurtle cell carcinoma 206 syndromes (IBFS) 263 juvenile polyposis syndrome 51, 63, 78 hyaline membrane disease 179–80 interface dermatitis 3–5 juvenile xanthogranuloma 34, 369–70 hydronephrosis 281 erythema multiforme 1, 3–4 clinical presentation 63 hyperbilirubinaemia, neonatal 98 pityriasis lichenoides 1, 3, 4–5 differential diagnosis 63 hyperinsulinism, congenital 218–20 interstitial cystitis 295 genetics 63 classification 220 intestinal atresia/stenosis 53 histology 63 diffuse form 219 colon 67 macroscopy 63 focal forms 219 small bowel 53–4 testicular involvement 315–16 hyperparathyroidism 208–10 classification 53 hyperplastic polyps 51 clinical features 53–4 Kamino bodies 12 hypospadias 322–3 histology 54 kaposiform hemangioendothelioma hypothalamic neuronal hamartoma 201 intestinal hypoganglionosis 70 20–1, 155, 357 hypothalamo-hypophyseal axis 198 intestinal metaplasia 47 clinical presentation 21 intestinal neuronal dysplasia 70 histology 21, 22–3 idiopathic midline destructive intestinal pseudo-obstruction 67–71 Kaposi sarcoma 22–3, 352, 358 granuloma 131 Hirschsprung’s disease 68–70 clinical presentation 22 Id reaction 1 hypoganglionosis 70 karyotyping 490 immunodeficiencies 248–53 neuronal dysplasia 70 Kasabach–Merritt phenomenon histiocytic disease associated visceral myopathies 71 associated tumors 20, 357 with 249–50 intraneural perineurioma 371 Kasabach–Merritt syndrome 155, 357 chronic granulomatous disease 50, intratubular germ cell neoplasia of Kawasaki disease 236 249–50 unclassified type (ITGN) 325 keratinocytic nevus 26–7 hemophagocytic keratocystic odontogenic tumors 140 lymphohistiocytosis 250 jaw cysts 138–40 kidney 275–301 HIV-associated lymphomas 252–3 developmental odontogenic 138–40 non-neoplastic disease 275–84 lymphomas associated with 250–3 dental follicles 139 developmental anomalies 275–6 post-transplant lymphoproliferative dentigerous cyst 138–9 glomerular and tubulo-interstitial disease 250–2 glandular odontogenic cyst 139–40 disorders 283, 285 Nijmegan breakage syndrome 248–9 lateral periodontal cysts 139 obstructive nephropathy 280–1 rare lymphoid malignancies inflammatory odontogenic 138 reflux nephropathy 280 associated with 248–9 paradental cyst 138 renal agenesis 279 inclusion-bearing fibromatosis 363 radicular cyst 138 renal cystic disease 278 infantile fibrosarcoma 366, 367 keratocystic odontogenic tumors 140 renal duplication 279 infantile hemangioma 17, 18, 155, 356 non-odontogenic 140 renal dysplasia 276–8 clinical presentation 17 orthokeratinized odontogenic 140 renal hypoplasia 278 histology 17 Johanson–Blizzard syndrome 113, 114 renal tubular dysgenesis 281–2 infantile myofibroma 362 joint lesions 428–34 supernumerary kidneys 279 infantile rhabdomyofibrosarcoma 368 degenerative joint disease 432 urinary tract infection 281 infections ganglion cyst 428–9 tumors 285–95 central nervous system 465–7 hemophilic arthropathy 432–3 classification 286 skin 9–10 hemosiderotic synovitis 432–3 clear cell sarcoma 292–3 urinary tract 281 lipoma arborescens 431 cystic nephroma 290–1 see also specific causes and organisms Lyme disease 433 mesoblastic nephroma 291–2 infective panniculitis 8 pigmented villonodular synovitis metanephric 294 inflammatory bowel disease 72–8 429–30 nephrogenic rests 290 Crohn’s disease 51, 75–8 rheumatoid arthritis 431–2 renal cell carcinoma 294–5 504 esophageal involvement 46 synovial cyst 429 renal rhabdoid tumor 293–4

Index

small round cell 477–8 liver germ cell 110 staging criteria 289 biopsy 92–3, 100 hepatoblastoma 103–4, 478–9 Wilms’ tumor 285–90, 477–8 microanatomy 91–2 hepatocellular adenoma 108–9 see also entries under renal transplantation 110, 111 hepatocellular carcinoma 104–7 Kikuchi–Fujimoto disease 235 liver disease hepatocellular neoplasm 107–8 Kimura disease 235–6 cirrhosis 103 inflammatory myofibroblastic 110 Klebsiella rhinoscleromatis 130 fibrocytic 97–101 mesenchymal hamartoma 109 Klippel-Trenaunay syndrome 20 autosomal dominant polycystic metastatic 110 kidney disease 97–8 nested stromal epithelial tumor 109 lactating adenoma 338 Caroli’s disease 97 rhabdomyosarcoma 109 Lafora body disease 462 choledochal cyst 100 small round cell 478–9 Langerhans cell histiocytosis 33–4, 110, congenital hepatic fibrosis 97 undifferentiated (embryonal) 236–7, 423–5, 460 ductal plate malformation 97 sarcoma 109 clinical presentation 33, 424 in malformation syndromes 98 vascular 109 differential diagnosis 34, 425 extrahepatic biliary atresia 98–100 lobar overinflation, congenital 174–5 genetics 424 isolated hepatic polycystic disease 98 loss of heterozygosity (LOH) 488 histology 33, 424 neonatal sclerosing cholangitis 101 low grade fibromyxoid sarcoma 368 macroscopy 424 spontaneous perforation of lung development disorders 175–7, larynx 142–3 common bile duct in 178, 179 hemangioma 142 infancy 101 ACDMPV 176–7 laryngocele 142 hepatitis 101–2 acinar dysplasia 175 respiratory papilloma/papillomatosis autoimmune 103 congenital alveolar dysplasia 175–6 142–3 B and C 102 lung growth abnormalities 177–81 lateral periodontal cysts 139 cytomegalovirus 102–3 lupus erythematosus profundus 8 leiomyoma 361 Echinococcus 103 Lyme disease 433 leiomyosarcoma 352, 361 herpes simplex 102 lymphangiectasia 188–9 leishmaniasis 9–10 neonatal 101 lymphangioma 417 clinical presentation 10 parasitic infections 103 lymphangiomatosis 188–9 differential diagnosis 10 viral 102 lymphatic malformations 25 histology 10 metabolic, patterns, steatotic 110–12 bone 417 leprechaunism 218 metabolic disorders head and neck 149 leprosy, nasal infection 130 alpha-1 antitrypsin deficiency 92, 96 salivary glands 156 leukemia gangliosidosis 96 skin 24–5 acute myeloid 255–9, 260–1 glucocerebrosidosis (Gaucher lymph nodes 228–48 acute promyelocytic 259 disease) 94, 96 benign conditions 231–6 congenital acute 261–2 histology 94 autoimmune lymphoproliferative cutaneous 30–1 lysosomal storage disorders 96 syndrome 232–3 juvenile myelomonocytic 262 metachromatic leukodystrophy 96 Castleman’s disease 234 megakaryoblastic 110 mitochondrial fatty acid oxidation dermatopathic change 232 skin biopsy 261 defects 94, 97 Kawasaki disease 236 leukocytoclasia 6 neonatal hemochromatosis 94, 97, Kikuchi–Fujimoto disease 235 Leydig cell tumor 98, 113 Kimura disease 235–6 ovary 308 oligosaccharidoses post-therapy 232 testis 317–18 (mannosidosis) 96–7 progressive transformation of Lhermitte–Duclos disease 449 patterns germinal centers 233 lichen planus 1 cholestatic 93 reactive lymphoid hyperplasia 231 lichen sclerosus 310 cirrhotic 93 rheumatological, autoimmune Li-Fraumeni syndrome 352 ductopenic 94 and inflammatory bowel adrenal cortical tumors 212 neoplastic 94 disease 232 limb girdle muscular dystrophy 464 steatotic 94 benign histiocytic disease 236 linear IgA disease of childhood 5–6 sphingolipidoses (Niemann–Pick biopsy 230 lingual thyroid 201 disease) 96 follicular dendritic cell sarcoma 237 lipoblastoma 353, 373 storage 94 histiocytic neoplasms 236–7 genetics 354–5 Wilson disease 95–6 see also lymphoma lipofibromatosis 363–4 liver steatosis in children 110–12 lymphoblastic lymphoma 238 lipoma, solitary 373 liver transplant pathology 110 B-cell 238, 254, 256 lipoma arborescens 431 liver tumors 103–10 T-cell 237–8 liposarcoma 352, 373–4 carcinoid 110 lymphoblasts 255 pleomorphic-myxoid 374 classification 106 lymphocytic esophagitis 46 spindle-myxoid 374 fibronodular hyperplasia 109 lymphocytic gastritis 49 505

Index

lymphoepithelial cyst 202 McCune–Albright syndrome MEN I syndrome 209 lymphoid hyperplasia 66 adrenal involvement 211 adrenal involvement 211 infection-associated 231–2 pituitary involvement 200 parathyroid involvement 209 bacteria and spirochetes 232 macromastia 343 pituitary involvement 200 mycobacterial infections 232 Maffucci syndrome 20 MEN II syndrome 209 protozoal infections 231 malakoplakia 281, 295 Ménetrier disease 49 viral infections 231 male reproductive system 313–23 meningioma 456–8 non-specific 231 epididymis, spermatic cord and ectopic 134 reactive 231 paratesticular tissue 319–22 transitional 456 lymphoma penis 322–3 MERRF syndrome 462 B-cell 228–30 prostate 322 mesenchymal chondrosarcoma 375, 476 breast 346 testis 313–19 genetics 472 central nervous system 460 see also individual parts mesenchymal hamartoma 108, 109 clinical features 228 malignant fibrous histiocytoma 369 mesenchymal tumors cutaneous 30–1 malignant melanoma 15–17 central nervous system 456–8 diagnosis 231 ABCDE clinical rule 15 with EWS gene rearrangements 375–8 epidemiology 228 clinical presentation 15–16 mesial temporal sclerosis 462 follicular 243–4 conventional 16 mesoblastic nephroma 291–2 HIV-associated 252–3 histology 16–17 mesonephric duct system, Hodgkin 246–8 pathogenesis and genetics 16 developmental anomalies 319 pathogenesis 228–30 predisposing factors 16 metachromatic leukodystrophy 96 immunodeficiency-associated 250–3 small-cell 16 metanephric tumors 294 intestinal 66–7 spitzoid 17 adenofibroma 294 marginal zone malignant mesothelioma 321 stromal 294 extranodal of MALT 244–5 malignant mixed germ-cell tumors microadenoma, pituitary pediatric nodal type 245 (MGCTs) adenohypophysis 199 mature B-cell 241–3 ovary see ovarian tumors microlithiasis of testis 315 Burkitt lymphoma 66, 67, 241–2 testis see testicular tumors microscopic colitis 72 diffuse large B-cell lymphoma malignant peripheral nerve sheath microvillous inclusion disease 242–3 tumor (MPNST) 352, (MVID) 57 primary mediastinal (thymic) 371–2, 475 midline cervical cleft, congenital 146 large B-cell lymphoma 243 malignant rhabdoid tumors see miliaria 1 rare forms 243–6 rhabdoid tumors, malignant mitochondrial fatty acid oxidation mediastinal gray zone 245–6 MALT see mucosa-associated defects 94, 97 natural killer cell 241 lymphoid tissues mixed germ-cell–sex-cord stromal non-Hodgkin 475 mammary analog secretory tumors overview 228 carcinoma 157 ovary 309 pathogenesis 229–30 marginal zone lymphoma gonadoblastoma 309 post-thymic/peripheral T-cell 238–40 extranodal of MALT 244–5 mixed gonadal dysgenesis 324 anaplastic large T-cell lymphoma pediatric nodal type 245 mixed malignant germ-cell 30, 32, 238–9 mastocytosis 32–3 tumors 307, 317 anaplastic large T-cell lymphoma, Mayer–Rokitansky–Kuster–Hauser molecular genetics 481–97 small cell variant 239, 476 syndrome 309 see also specific techniques hepatosplenic (gamma/delta) Meckel Gruber syndrome 277 molluscum contagiosum 9 T-cell lymphoma 240, 241 Meckel’s diverticulum 54–5 monoblasts 259 peripheral T-cell lymphoma meconium periorchitis 319 monorchidism 313 239–40 mediastinal gray zone lymphoma mucocele 151 precursor T-cell/B-cell 237–8 245–6 mucoepidermoid carcinoma 156–7 B-lymphoblastic lymphoma 238, mediastinal mass 172 mucosa-associated lymphoid tissues 254, 256 medullary thyroid carcinoma 206–7 (MALT) 245 T-lymphoblastic lymphoma 237–8 medulloblastoma 448–50 lymphoma 244–5 sino-nasal NK/T cell 131 molecular pathology 450 mucous cyst 310 lymphomatoid papulosis 30, 31–2 medulloepithelioma 460 Müllerian cyst 310, 322 lysosomal storage disorders 96 megakaryoblastic leukemia 110 Müllerian papilloma 310 glucocerebrosidosis 96 melanocytic nevi 1 multifocal lymphangioendotheliomatosis GM1-gangliosidosis 96 common acquired 12 with thrombocytopenia 21 metachromatic leukodystrophy 96 congenital 11–12 multiple endocrine neoplasia I syndrome sphingolipidoses 96 melanotic neuroectodermal tumor see MEN I syndrome sphingomyelin-lipidosis 96 of infancy 141–2, 474, 475 muscle diseases 463, 464 506 Wolman disease 96 paratesticular 320 see also specific diseases

Index

muscular dystrophy 464 persistent pulmonary hypertension Niemann–Pick disease 94, 96 mycobacterial infections of newborn 187–8 Nijmegan breakage syndrome 248–9, 352 lymphoid hyperplasia 232 respiratory distress of newborn 179 nipple duct adenoma 341 nasal 130 sclerosing cholangitis 101 nodular fasciitis 361, 362 mycosis fungoides 30, 31 nephroblastoma see Wilms’ tumor nodular mesothelial hyperplasia 320 myeloblasts 259 nephrogenic rests 290 non-alcoholic fatty liver disease myeloid sarcoma 259–60 nephroma 292 (NAFLD) 110 myelolipoma, adrenal 218 nephronophthisis 285 histology 112 myelopoiesis, transient abnormal 261 nephropathy non-alcoholic steatohepatitis (NASH) myoepithelial neoplasms 378 genetics 286 110–11 myoepithelioma 152–3, 378 obstructive 280–1 histology 112 genetics 354–5 reflux 280 non-Hodgkin lymphoma 475 myofibroblastic tumors 361–8 nerve sheath tumors 455 non-involuting congenital myofibroma/myofibromatosis 362, malignant peripheral 352, 371–2, 475 hemangioma (NICH) 17–18 363, 419 myxoma 371 non-ossifying fibroma 411, 412 myofibrosarcoma 368 nested stromal epithelial tumor 109 non-specific interstitial pneumonia myopericytic tumors 361–8 neuroblastoma 34–5, 110, 215, 216 (NSIP) 184 myopericytoma 358 congenital 217–18 Noonan syndrome 352 myositis ossificans 361, 403–4 histology 214–16 Nora lesion 400 myxoid lesions 381 IV S stage 218 Northern blotting 481, 488–9 myxoid liposarcoma 354–5 macroscopy 214 nose, paranasal sinuses and myxopapillary ependymoma 446 pathology 216 nasopharynx 129–38 poorly differentiated 477 bone and cartilage tumors 138 nasal chondromesenchymal staging 214 congenital pleomorphic adenoma hamartoma 135 neurocytoma 449 132–3 nasolabial cysts 133 neuroendocrine cell dysgenesis 56 craniopharyngioma 134 nasopalatine duct cyst 140–1 neuroendocrine cell hyperplasia of ectopic meningioma 134 nasopharyngeal angiofibroma 135–6 infancy 182–3 esthesioneuroblastoma 137–8 nasopharyngeal carcinoma 136–7 clinical presentation 182 heterotopic central nervous system nasopharyngeal cysts 133 differential diagnosis 183 tissue 133–4 nasopharynx see nose, paranasal hereditary/genetic features 182 inflammatory lesions 130 sinuses and nasopharynx histology 182–3 fungal infection 130 natural killer cell lymphoma 241 neurofibroma 370, 454 granulomatous conditions 130 neck diffuse 370 mycobacterial infection 130 developmental anomalies 143–8 plexiform 370 rhinoscleroma 130 branchial arch 144–6 neurofibromatosis 1 79, 352 rhinosporidiosis 130 chondrocutaneous remnants 146 neurogenic tumors 370–2 lethal midline granuloma/midfacial congenital midline cervical neuroglial heterotopia 134 necrotizing lesions 130–1 cleft 146 neuromuscular disorders 462–5 midline nasopharyngeal cyst 133 dermoid cysts 148 biopsy 462–3 nasal chondromesenchymal foregut duplication cysts 148 inflammatory myopathy 463 hamartoma 135 parathyroid cysts 147–8 neuropathology 438–70 nasolabial cyst 133 pre-auricular lesions 146 central nervous system tumors 438–54 nasopharyngeal angiofibroma 135–6 thymic cysts 147 neurothekeoma 371 nasopharyngeal carcinoma 136–7 thymic remnants 147 neutropenic colitis (thyplitis) 72 polyps 131–2 thymopharyngeal duct cyst 147 nevus 1 antrochoanal 131–2 thyroglossal duct 143–4 blue 14–15 congenital hairy 132 teratoma 148–9 congenital melanocytic 11–12 inflammatory 131 tumors with thymic pouch epidermal 333 salivary gland anlage tumor 132–3 differentiation 148 halo 14 nummular dermatitis 1 vascular lesions 149 keratinocytic 26–7 necrotizing enterocolitis (NEC) 61–2 melanocytic 1 obstructive nephropathy 280–1 nemaline rod disease 464 common acquired 12 oligo-astrocytoma, mixed/anaplastic neonate/neonatal congenital 11–12 444 cholestasis 92 of Reed 13–14 oligodendroglioma 444 gingival cysts 140 sebaceous 27 anaplastic 444 hemochromatosis 94, 97, 98, 113 Spitz 12–13 oligonucleotide synthesis 489 hepatitis 92, 95, 98, 101 nevus comedonicus 26 oligosaccharidoses 96–7 hyperparathyroidism 209 nevus sebaceous 26, 27 mannosidosis 96 liver histology 98 next generation sequencing 495 oophoritis, autoimmune 303 507

Index

oral lesions 138–42 with annular tubules 308–9 paratesticular tissues central giant-cell granuloma 141 fibroma 309 benign tumors 320–1 congenital granular cell tumor 141 juvenile granulosa cell tumor 307 adenomatoid tumor 320 jaw cysts 138–40 sclerosing stromal tumor 308 fibrous hamartoma 321 developmental odontogenic 138–40 Sertoli–Leydig cell tumor 308 melanotic neuroectodermal dental follicles 139 small cell carcinoma, hypercalcemic tumor 320 dentigerous 138–9 type 309 nodular mesothelial glandular odontogenic 139–40 ovary 302–9 hyperplasia 320 lateral periodontal 139 non-neoplastic disorders 302–3 papillary cystadenoma of inflammatory odontogenic 138 autoimmune oophoritis 303 epididymis 320 paradental 138 cysts 302 developmental anomalies 319 radicular 138 developmental anomalies 302 adrenal rests 319 keratocystic odontogenic massive edema 302–3 epididymal cysts 319 tumors 140 polycystic ovarian syndrome 302 meconium periorchitis 319 non-odontogenic 140 ovotestis 324 mesonephric duct system palatal 140 abnormalities 319 melanotic neuroectodermal tumor palatal cysts 140 splenogonadal fusion 319 of infancy 141–2 Palliser–Hall syndrome 201 epididymal sarcoidosis 319 nasopalatine duct cyst 140–1 palmar/plantar fibromatoses 365 malignant tumors 321–2 orofacial granulomatosis 141 pancreas 90–126 desmoplastic small round cell orthokeratinized odontogenic cysts 140 cystic fibrosis 94, 113, 186–7 tumor 321–2 orthokeratosis, “basket weave” 4 development 90, 91 malignant mesothelioma 321 Osgood–Schlatter disease 426 developmental abnormalities 112–13 rhabdomyosarcoma 321 osteoarthritis 432 annular pancreas 113 see also testis osteoblastoma 406–7 cysts 113 parathyroid cysts 147–8 osteochondroma 397, 398 pancreas ectopia 112 parathyroid glands 207–10 osteofibrous dysplasia 423 pancreatic agenesis 112 adenoma 208–9 osteoid osteoma 406–7 endocrine 218–20 cystic lesions 208 osteoma 405–6 congenital hyperinsulinism 218–20 fetal 208 osteomyelitis infant of diabetic mother 218 hyperparathyroidism 208–10 acute 428 islet hypertrophy/hyperplasia 218 hyperplasia 209–10 chronic 429 exocrine 113 supernumerary 207 infectious 427–8 Johanson–Blizzard syndrome 114 PCR 481–3, 489 non-infectious 428 Pearson syndrome 114 Q-PCR 481, 482 osteosarcoma 407–9 Shwachman–Diamond and RFLP 488 chondroblastic 409 syndrome 113 RT-PCR 481, 482, 489 extraskeletal 374 heterotopic (ectopic) 48 Pearson syndrome 113, 114 low-grade surface 409 microanatomy 92 pelviureteric obstruction 278 perosteal 409 tumors 114–18, 219 penis 322–3 resection 410 acinar cell carcinoma 117–18 balanitis xerotica obliterans 323 otitis media 127–8 hamartoma 118 epispadias 322 ovarian tumors 303–9 neuroendocrine 118 hypospadias 322–3 Burkitt lymphoma 309 pancreatoblastoma 115–17 yolk sac tumor 323 Ewing sarcoma 313 solid-pseudopapillary 114–15 perineuroma 371, 455 germ-cell tumors 303–7 pancreatic panniculitis 8 peripheral nerve tumors 370–2 dysgerminoma 303 pancreatitis 118 peripheral T-cell lymphoma 239–40 embryonal carcinoma 306 panniculitis 8–9 periprostatic abscess 322 malignant mixed germ-cell papillary cystadenoma of perivascular epithelioid cell tumor tumors 307 epididymis 320 (PEComa) 380 non-gestational choriocarcinoma papillary glioneuronal tumor 449 Perlman syndrome 218 306–7 papillary intralymphatic renal tumors 286 polyembryoma 306 angioendothelioma (PILA) perosteal osteosarcoma 409 teratoma 305–6 21, 22, 357 persistent pulmonary hypertension of yolk sac tumor 304–5 papillary thyroid carcinoma 204–5 newborn (PPHN) 187–8 mixed germ-cell–sex-cord stromal diffusing sclerosing variant 205 personalized gene-targeted therapy 481 tumors 309 follicular variant 204 Peutz–Jeghers syndrome 51, 63–4 gonadoblastoma 309 oncocytic (oxyphilic) variant 205 Phelan–McDermid syndrome 380 mucinous and serious neoplasms 309 paradental cyst 138 pheochromocytoma 212–14 sex-cord–stromal cell tumors 307–9 paranasal sinuses see nose, paranasal phyllodes tumor 334, 336, 337–40 508 adult granulosa cell tumor 307–8 sinuses and nasopharynx pigmented purpuric dermatosis 1

Index

pigmented villonodular congenital hairy 132 psoriasis 1, 3 synovitis 429–30 inflammatory 131 PTEN hamartoma syndromes 64 pilocytic astrocytoma 440–1 small bowel 62–7 pulmonary alveolar proteinosis (PAP) pilomatrixoma 28 adenomatous polyps 65 184 pilomyxoid astrocytoma 441 adenomyomatous polyps 65 pulmonary hyperplasia 174–5 pinealoblastoma 452–3 hamartomatous polyps and pulmonary interstitial emphysema 179, pineal tumors 452–3 polyposis syndromes 63–5 180–1 pineocytoma 453 lymphoid 66–7 pulmonary interstitial glycogenosis pituitary adenoma 200, 455–6 sporadic polyps and polyposis 181–2 plurihormonal 200 syndromes 63 pulmonary sequestrations 173–4 pituitary gland 198 vagina 310 extralobar 174 adenohypophysis 198 post-steroid panniculitis 8 intralobar 174 congenital anomalies 198–9 post-transplant lymphoproliferative pyelonephritis 281 cysts 199 disease (PTLD) 250–2 macroscopy 281 duplication 199 clinical features 251 xanthogranulomatous 281 neurohypophysis 198 genetics 252 pyloric stenosis 47–8 parasellar lesions 200 histology 251–2 pyogenic granuloma 19 tumors 191, 199–201 immunohistochemistry 252 pityriasis lichenoides 1, 3, 4–5 monomorphic 252 22q11 deletion syndrome 44 pityriasis lichenoides et varioliforme pathological classification 251 quantitative (Q)-PCR 479, 481, 482, 494 acuta see PLEVA polymorphic 252 pityriasis rosea 1 pre-auricular lesions 146 radicular cyst 138 pityriasis rubra pilaris 1 precursor B-lymphoid neoplasms 253–5 ranula 151 plaque-like CD34-positive dermal primary mediastinal (thymic) rapidly involuting congenital fibroma 26 large B-cell lymphoma hemangioma (RICH) 17–18 pleomorphic adenoma 151–2 (PMBCL) 243 Rasmussen’s encephalitis 462 pleomorphic-myxoid liposarcoma 374 primitive neuroectodermal tumor Rathke’s pouch pleomorphic xanthoastrocytoma 443–4 (PNET) 313, 352, 375–6, cysts 199 pleuropulmonary blastoma 191–2, 479 412–13, 450–1 remnants 198 PLEVA 4 clinical presentation 412, 451 rectal suction biopsy 68–70 plexiform fibrohistiocytic tumor 369 differential diagnosis 413, 451 recurrent respiratory papillomatosis plexiform neurofibroma 370 genetics 354–5, 412, 472 142–3 plurihormonal adenoma 200 histology 413, 451 Reed nevus 13–14 polycystic disease immunohistochemistry 451 Reed–Sternberg cells 247 hepatic 98 macroscopy 413 reflux nephropathy 280 renal autosomal dominant 97–8 molecular pathology 451 refractory cytopenia of childhood 263–5 renal autosomal recessive 284 neuroimaging 451 renal agenesis 279 polycystic ovarian syndrome (PCOS) 302 prognosis 451 renal cell carcinoma 294–5 polyembryoma 306 primitive polar spongioblastoma 460 renal cystic disease 275–6, 278 polymerase chain reaction see PCR progressive multifocal classification 275, 276 polyorchidism 313 leucoencephalopathy 466 ADPK 97–8, 284 polyposis syndromes progressive transformation of germinal ARPK 284 colon 78–9 centers (PTGC) 233 glomerulocystic 282, 283 small bowel prolactinoma 200 medullary cystic 276, 282 hamartomatous 63–5 prostate 322 nephronophthisis 285 sporadic 63 malignant tumors 322 clinical presentation 275–6, 282–3 see also specific syndromes malignant rhabdoid tumor 322 genetics 282, 283 polyps rhabdomyosarcoma 322 pathology 275–6, 283 aural inflammatory 129 periprostatic abscess 322 renal developmental anomalies 275–6 colon 78–9 prostatic utricle cyst 322 renal dysplasia 276–8 fibrous umbilical 362 protozoal infections 467 aplastic/hypoplastic 276, 277 gastric 51 lymphoid hyperplasia 231 clinical presentation 277 Cowden syndrome 51 protuberant fibro-osseous lesion of histology 278 fundic gland 51 temporal bone (PFOLTB) 404 macroscopy 277 hamartomatous 51 pseudarthrosis 427 microscopy 278 hyperplastic 51 pseudoangiomatous stromal multicystic 277 juvenile 51, 64 hyperplasia (PASH) 336, obstructive 278 Peutz–Jeghers syndrome 51, 64 343–4 segmental 277 nasal 131–2 Pseudomonas aeruginosa 186 variants 279 antrochoanal 131–2 psoriasiform dermatitis 2–3 renal hypoplasia 278 509

Index

renal medullary carcinoma 294–5 persistent pulmonary hypertension endodermal sinus tumor 159 renal rhabdoid tumor 293–4 of newborn 187–8 mucoepidermoid carcinoma 156–7 renal tubular dysgenesis 281–2 restriction enzymes 483, 484–5 rhabdomyosarcoma 159–60 reproductive system 302–32 restriction fragment length sialoblastoma 158–9 female 302–13 polymorphism see RFLP non-neoplastic lesions 151 ovary 302–9 retiform hemangioendothelioma 21, 22 mucocele 151 uterus, cervix, vagina and vulva retinal anlage tumor 320 ranula 151 309–13 retinoblastoma, hereditary 352 salivary polycystic dysgenetic disease male 313–23 reverse transcriptase (RT)-PCR 481, 150, 151 epididymis, spermatic cord and 482, 489 Sanderson’s pollsters 202 paratesticular tissue 319–22 RFLP 481, 486–8 sarcoglycanopathy 464 penis 322–3 and PCR 488 sarcoidosis, epididymal 319 prostate 322 rhabdoid tumors, malignant 294, 322, sarcoma testis 313–19 380, 381 alveolar soft part 354–5, 379, 380 sex development disorders 323–6 genetics 354–5 clear cell see clear cell sarcoma respiratory distress of newborn hepatic 104, 109 embryonal, of liver 109 (RDS) 179 renal 293–4 epithelioid 379, 380 respiratory papilloma/papillomatosis rhabdomyofibrosarcoma, infantile 368 Ewing see Ewing sarcoma 142–3, 189–90 rhabdomyoma 358–9 Ewing-like 354–5, 377 respiratory system 171–97 fetal 359 fibromyxoid, low-grade 368 congenital lung malformations 171–5 rhabdomyosarcoma 34–5, 352 follicular dendritic 237 bronchogenic cyst 171–2 alveolar 354–5, 360, 472 frequency 352 congenital pulmonary airway biliary tract 109 Kaposi 22–3, 358 malformation 172–3 botryoid embryonal 359 low-grade fibromyxoid 368 lobar overinflation 174–5 breast 334 myeloid 259–60 pulmonary hyperplasia 174–5 diagnosis 351 synovial 378–9, 472 pulmonary sequestrations 173–4 ear 127 undifferentiated 109, 472 cystic fibrosis 186–7 embryonal 160, 359, 360, 473 sarcoma botryoides 312 hyaline membrane disease 179–80 paratesticular 321 Schiller–Duval bodies 304, 458 see also respiratory distress prostate 322 schistosomiasis 102 syndrome salivary glands 159–60 Schönlein–Henoch purpura see lung development disorders 175–7, skeletal muscle 359–60 Henoch–Schönlein purpura 178 spindle cell 359 Schwachman-Diamond syndrome 264 acinar dysplasia 175 rheumatoid arthritis 431–2 schwannoma 370, 453–4 alveolo-capillary dysplasia/ rhinoscleroma 130 schwannomatosis 352, 371 malalignment of pulmonary rhinosporidiosis 130 sclerema neonatorum 8 veins 176–7 RNA microarrays 481, 493 sclerosing cholangitis congenital alveolar dysplasia 175–6 Roberts syndrome 352 neonatal 101 lung growth abnormalities 177–81 Rosai–Dorfman disease 130, 236, secondary causes 101 neoplasms 189–93 425, 426 sclerosing polycystic adenosis 154–5 fetal lung interstitial tumor 190–1 round cell tumors 353 sclerosing stromal tumor 308 inflammatory myofibroblastic desmoplastic small round cell tumor sebaceous nevus 27 tumor 190 321–2, 376–7, 476 seborrheic dermatitis 1 peripheral primitive Rubinstein–Taybi syndrome 352 seminoma 317 neuroectodermal tumor sequencing 494–5 192–3 salivary glands 150–60 epigenome 481, 495–6 pleuropulmonary blastoma 191–2 benign tumors 151–6 transcriptome 495 respiratory papilloma/ cystadenoma 153–4 whole exome 495 papillomatosis 142–3, 189–90 hemangioma 155–6 whole genome 495 neuroendocrine cell hyperplasia of lymphatic malformations 156 Sertoli cell tumor infancy 182–3 mesenchymal 155 ovary 308 pulmonary interstitial emphysema myoepithelioma 152–3 testis 318 180–1 pleomorphic adenoma 151–2 Sertoli–Leydig cell tumor 308 pulmonary interstitial glycogenosis sclerosing polycystic adenosis sex-cord–stromal cell tumors 181–2 154–5 ovary 307–9 surfactant dysfunction disorders choristoma 129 adult granulosa cell tumor 307–8 183–6 congenital malformations 150 with annular tubules (SCTAT) vascular disorders 187–9 malignant tumors 156–60 308–9 lymphangiectasia 188–9 acinic cell carcinoma 157 fibroma 309 510 lymphangiomatosis 188–9 adenoid cystic carcinoma 157–8 juvenile granulosa cell tumor 307

Index

sclerosing stromal tumor 308 panniculitis 8–9 intra-abdominal/pelvic 476–7 Sertoli–Leydig cell tumor 308 psoriasiform dermatitis 2–3 kidney 477–8 testis 317–18 spongiotic dermatitis 1–2 liver 478–9 juvenile granulosa cell tumor 317 vasculitis 6–7 soft tissue and bone 475–6 Leydig cell tumor 317–18 melanocytic lesions 10–17 specimen handling 471–2 Sertoli cell tumor 318 atypical spitzoid neoplasms 13 Smith–Lemli–Opitz syndrome 47 sex development disorders 323–6 blue nevus 14–15 smooth muscle tumors 361 androgen insensitivity syndrome common acquired melanocytic leiomyoma 361 325–6 nevus 12 leiomyosarcoma 361 dysgenetic 323–4 congenital melanocytic nevi 11–12 uncertain malignant potential 361 dysgenetic testicular tissue 324 dermal melanocytosis 10 soft tissue fibroma 362 mixed gonadal dysgenesis 324 halo nevus 14 soft tissue tumors 351–96 in situ neoplastic lesions 324–5 malignant melanoma 15–17 adipocytic tumors 373–4 streak gonads 323 nevus of Reed 13–14 diagnosis 351–5 undifferentiated gonadal tissue simple lentigo 10–11 disorders associated with 352 324 metastatic infiltration 34–5 extraskeletal osseous, cartilaginous maturation delay of germ cells 325 non-vascular mesenchymal and chordoid 374–5 ovarian/testicular 323 neoplasms 25–6 fibroblastic, myofibroblastic and ovotesticular 323 vascular anomalies 17–25 myopericytic 361–8 prophylactic gonadectomy 325 vascular malformations 23–5 fibrohistiocytic 368–70 Schwachman–Diamond syndrome 113 vascular tumors 17–23 gastrointestinal stromal tumor 52–3, sialoblastoma 158–9 see also individual conditions 372–3 signet ring cell carcinoma 52 small bowel 53–67 genetics 354–5 simple lentigo (SL) 10–11 celiac disease 59–61 mesenchymal with EWS gene Simpson–Golabi–Behlem syndrome 286 congenital malformations 53–6 rearrangements 375–8 single nucleotide polymorphisms atresia/stenosis 53–4 morphology and (SNPs) 481, 490–2 duplication cysts 55–6 immunohistochemistry 353 sino-nasal NK/T cell lymphoma 131 Meckel’s diverticulum 54–5 pathology report 354 skin diseases 1–42 necrotizing enterocolitis 61–2 peripheral nerve and neurogenic epidermal/adnexal neoplasms and polyps/tumors 62–7 370–2 cysts 26–30 adenomatous polyps 65 small round-cell tumors 475–6 basal cell carcinoma 29 adenomyomatous polyps 65 smooth/skeletal muscle 358–61 dermoid cyst 27 carcinoid/neuroendocrine of uncertain differentiation 378–81 epidermal nevi 333– tumors 66 vascular/perivascular 355–8 keratinocytic nevus 26–7 hamartomatous polyps and see also specific tumors nevus sebaceous 26, 27 polyposis syndromes 63–5 solid-pseudopapillary pancreatic tumor pilomatrixoma 28 inflammatory myofibroblastic 114–15 squamous cell carcinoma 29–30 tumor 65 Southern blotting 481, 483–6, 487, 489 syringoma 29 lymphoid 66–7 disadvantages 486 trichoblastoma/trichoepithelioma sporadic polyps and polyposis DNA purification 483–5 28–9 syndromes 63 dot-blotting 481, 485, 486 hematopoietic neoplasms 30–4 protracted diarrhea of infancy 56–9 semi-quantitative 486 anaplastic large T-cell lymphoma autoimmune/immunodeficiency spectral karyotyping 490 (ALCL) 30, 32 associated enteropathies 58 sphingolipidoses (Niemann–Pick cutaneous lymphomas/leukemias differential diagnosis 56 disease) 96 30–1 microvillous inclusion disease 57 sphingomyelin-lipidosis 96 histiocytosis 33 neuroendocrine cell dysgenesis 56 spindle cell tumors 353 juvenile xanthogranuloma 34 trichohepatoenteric syndrome 58 genetics 355 Langerhans cell histiocytosis 33–4 tufting enteropathy 58 hemangioma 19–20, 356 lymphomatoid papulosis 30, 31–2 villous architecture 56 clinical presentation 20 mastocytosis 32–3 volvulus 62 histology 20 mycosis fungoides 30, 31 small-cell carcinoma, hypercalcemic rhabdomyosarcoma 359 infections and bites 9–10 type 309 spindle epithelial tumor with leishmaniasis 9–10 small round-cell tumors 471–80 thymus-like differentiation molluscum contagiosum 9 adrenal/extra-adrenal paraganglia 477 (SETTLE) 148 warts 9 chest 479 spindle-myxoid liposarcoma 374 inflammatory 1–9 chromosomal translocations 472 Spitz nevus 10, 12–13 bullous dermatitis 5–6 differential diagnosis 472–3 spitzoid melanoma 17 granulomatous dermatitis 7–8 genitourinary 478 splenogonadal fusion 319 interface dermatitis 3–5 head and neck 473–5 spongiotic dermatitis 1–2 511

Index

squamous cell carcinoma 29–30 testicular tumors 316–19 thyroiditis histology 30 germ-cell tumors 316–17 chronic lymphocytic 202 predisposing factors 30 choriocarcinoma 317 Hashimoto’s 202 staphylococcal scalded skin syndrome embryonal carcinoma 316 T-lymphoblastic lymphoma 237–8 (SSSS) 4 epidermoid cysts 316 torsion of testis 315 Staphylococcus aureus 186 malignant mixed germ-cell toxocariasis 102 Stevens–Johnson syndrome 4 tumor 317 toxoplasmosis 231 stomach 47–53 seminoma 317 tracheo-esophageal fistula 43–4 congenital malformations 47–8 teratoma 316 clinical features 43 heterotopic (ectopic) yolk sac tumor 316 complications 43 pancreas 48 metastatic 318–19 histology 43 pyloric stenosis 47–8 carcinoid tumor 318 transcriptome sequencing 481, 495 gastritis 48–51 leukemia-related 319 transient abnormal myelopoiesis tumors 51–3 Wilms’ tumor 318 (TAM) 260–1 neoplasms 51–3 sex cord-stromal cell tumors 317–18 transitional liver cell tumor 108 polyps 51, 64, 65 juvenile granulosa cell tumor 317 translocations 491 streak gonads 323 Leydig cell tumor 317–18 traumatic panniculitis 8 stress fracture 426, 427 Sertoli cell tumor 318 trichoblastoma 28–9 subcutaneous fat necrosis testis 313–19 trichoepithelioma 28–9 of newborn 8–9 acquired disorders 315–16 trichohepatoenteric syndrome 58 subependymoma 446 epididymo-orchitis 315 trisomy 18 44 subungual exostosis 400 juvenile xanthogranuloma 315–16 trisomy 21 44 superficial angiomyxoma (SAM) 311 microlithiasis 315 tuberous sclerosis 352, 449 surfactant dysfunction torsion 315 tubulo-interstitial disorders 283, 285 disorders 183–6 toxic injury 315 tufted angioma 20, 21, 357 clinical presentation 183–4 developmental anomalies 313–14 clinical presentation 20 differential diagnosis 186 cryptorchidism and maldescent 314 histology 20 hereditary/genetic features 184 cystic dysplasia 313–14 tufting enteropathy 58 histology 184–6 monorchidism and tularemia 232 Sweet syndrome, subcutaneous 8 polyorchidism 313 tumoral calcinosis 433–4 synovial chondromatosis 400–1 testicular regression tyrosinemia 218 synovial cyst 429 syndrome 314 synovial hemangioma 431 vascular lesions 314 ulcerative colitis 73–5 synovial osteochondromatosis 401 dysgenetic 324 acute fulminant 75 synovial sarcoma 352, 378–9 see also paratesticular tissues histology 73–5 genetics 472 therapy-related myeloid neoplasms active phase 74 syringoma 29 258, 260 quiescent phase 74 systemic mastocytosis 413 thoracic small round cell tumors 479 resolving phase 74 thymic cysts 147 macroscopy 73 T-cell lymphoma thymic remnants 147 sites and patterns of involvement 73 anaplastic large T-cell lymphoma 30, thymopharyngeal duct cyst 147 unusual patterns 75 32, 238–9 thyplitis (microscopic colitis) 72 upper alimentary tract hepatosplenic (gamma/delta) T-cell thyroglossal duct involvement 75 lymphoma 240, 241 anomalies 143–4 umbilical polyp 362 peripheral T-cell lymphoma 239–40 cyst 144, 201 undifferentiated (embryonal) post-thymic/peripheral 238–40 thyroid gland 201–7 sarcoma 109 T-lymphoblastic lymphoma 237–8 autoimmune-associated genetics 472 tenosynovial giant-cell tumor 368–9, inflammatory conditions 202 urinary bladder see bladder 429–30 developmental disorders 201–2 urinary tract infection 281 teratoma dysgenesis 201 uterus neck 148–9 hemiagenesis 201 developmental anomalies 309 ovary 305–6 heterotopia 201 Mayer–Rokitansky–Kuster–Hauser immature 305–6 hyperplasia (goiter) 202–3 syndrome 309 mature 305 lingual 201 Müllerian duct defects 309 monodermal 305 neoplasms 203–7 Ewing sarcoma 313 testis follicular adenoma 205 mature/immature 316 follicular carcinoma 205–6 VACTERL-H 44 postpubertal 316 medullary thyroid carcinoma VACTERL/VATER 44 testicular adrenal rest 206–7 vagina 512 tumors (TARTS) 210 papillary thyroid carcinoma 204–5 benign lesions 309–10

Index

Bartholin gland cyst 310 venous hemangioma 416–17 whole chromosome painting 490 fibroepithelial polyp 310 venous malformation 24, 416–17 whole exome sequencing 495 Müllerian cyst 310 Verocay-like bodies 367 whole genome sequencing 495 Müllerian papilloma 310 verruca vulgaris see warts Williams–Campbell syndrome 187 vaginal adenosis 309–10 verrucous hemangioma 18–19 Wilms’ tumor 110, 218, 285–90,291,477 developmental anomalies VIPoma 118 classification 286–7 Mayer–Rokitansky–Kuster–Hauser viral infections clinical presentation 285–6 syndrome 309 central nervous system 466 differential diagnosis 289–90 transverse vaginal septum 309 lymphoid hyperplasia 231 immunohistochemistry 289 neoplasms virilizing adrenal tumors 211, 212 macroscopy 287–9 clear cell adenocarcinoma 312–13 visceral myopathies 71 metastatic 318 embryonal rhabdomyosarcoma volvulus 62 Wilson disease 95–6 311–12 vulva Wolman disease 96 Ewing sarcoma 313 benign lesions 310–11 yolk sac tumor 313 aggressive (deep) angiomyxoma xanthogranuloma, juvenile see juvenile vascular anomalies 17–25 311 xanthogranuloma vascular malformations 23–5 childhood asymmetric labium xanthogranulomatous arteriovenous 25 majus enlargement 311 pyelonephritis 281 capillary 23–4 cyst of canal of Nuck 311 xeroderma pigmentosum 15 glomovenous 24 Gartner duct cyst 310 joints 431 lichen sclerosus 310 Yersinia spp. 232 lymphatic 24–5 mucous cyst 310 Y. enterocolitica 232 venous 24 superficial angiomyxoma 311 Y. pseudotuberculosis 232 vascular tumors neoplasms, Ewing sarcoma 313 yolk sac tumor 304 bone 416 ovary 304–5 liver 109 WAGR syndrome 286 penis 323 skin 17–23 warts 9 testis 316 soft tissue 355–8 Werdnig–Hoffman disease 464 vagina 313 see also specific tumors Werner syndrome 352 vasculitis 6–7 Western blotting 481, 489 Zap-70 deficiency 248–9 and gastritis 49 white sponge nevus 26 Zellweger syndrome 218

513