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1 Tumours of the pituitary gland

WHO classification of tumours of the pituitary Introduction Pituitary adenoma Somatotroph adenoma Lactotroph adenoma

11

12 13 14 19 24 28 30 34 37 39 41 45 46 48 48 49 50 51 52 55 55 56 57 58 60 61 63
Spindle epithelial tumour with thymus-like differentiation Intrathyroid thymic carcinoma Paraganglioma and mesenchymal/stromal tumours Paraganglioma Peripheral nerve sheath tumours Benign vascular tumours Angiosarcoma Smooth muscle tumours Solitary fibrous tumour Haematolymphoid tumours Langerhans cell histiocytosis Rosai–Dorfman disease Follicular dendritic cell sarcoma Primary thyroid lymphoma Germ cell tumours
123 125 127 127 128 129 129 132 133 135 135 136 136 137 139 142
Thyrotroph adenoma Corticotroph adenoma Gonadotroph adenoma Null cell adenoma Plurihormonal and double adenomas Pituitary carcinoma Pituitary blastoma Craniopharyngioma Neuronal and paraneuronal tumours Gangliocytoma and mixed gangliocytoma–adenoma Neurocytoma Paraganglioma Neuroblastoma Tumours of the posterior pituitary Mesenchymal and stromal tumours Meningioma Schwannoma Chordoma Haemangiopericytoma/Solitary fibrous tumour Haematolymphoid tumours Germ cell tumours
Secondary tumours

3 Tumours of the parathyroid glands

WHO classification of tumours of the parathyroid glands TNM staging of tumours of the parathyroid glands Parathyroid carcinoma Parathyroid adenoma Secondary, mesenchymal and other tumours

145

146 146 147 153 159

4 Tumours of the adrenal cortex

WHO classification of tumours of the adrenal cortex TNM classification of tumours of the adrenal cortex Adrenal cortical carcinoma Adrenal cortical adenoma Sex cord–stromal tumours Adenomatoid tumour Mesenchymal and stromal tumours Myelolipoma

161

162 162 163 169 173 174 175 175 176 177 178
Secondary tumours

2 Tumours of the thyroid gland

WHO classification of tumours of the thyroid gland TNM classification of tumours of the thyroid gland Introduction Follicular adenoma Hyalinizing trabecular tumour Other encapsulated follicular-patterned thyroid tumours Tumours of uncertain malignant potential Non-invasive follicular thyroid neoplasm with papillary-like nuclear features
Papillary thyroid carcinoma Follicular thyroid carcinoma

65

66 67 68 69 73 75 76
Schwannoma Haematolymphoid tumours Secondary tumours

5 Tumours of the adrenal medulla and extra-adrenal paraganglia

WHO classification of tumours of the adrenal medulla and extra-adrenal paraganglia
78 81 92

179

180
Hürthle (oncocytic) cell tumours Poorly differentiated thyroid carcinoma Anaplastic thyroid carcinoma Squamous cell carcinoma Medullary thyroid carcinoma Mixed medullary and follicular thyroid carcinoma Mucoepidermoid carcinoma Sclerosing mucoepidermoid carcinoma with eosinophilia Mucinous carcinoma

  • 96
  • TNM staging of tumours of the adrenal medulla and

extra-adrenal paraganglia Introduction
100 104 107 108 114 117 119 121 122
180 181 183 190 190 192 196 204 206
Phaeochromocytoma Extra-adrenal paragangliomas Head and neck paragangliomas Sympathetic paraganglioma Neuroblastic tumours of the adrenal gland Composite phaeochromocytoma

  • Composite paraganglioma
  • Ectopic thymoma

6 Neoplasms of the neuroendocrine pancreas

WHO classification of neoplasms of the neuroendocrine pancreas TNM classification of tumours of neuroendocrine pancreas Introduction Non-functioning (non-syndromic) neuroendocrine tumours Insulinoma Glucagonoma

209

210 210 211 215 222 225 227 229 231
Somatostatinoma Gastrinoma VIPoma Serotonin-producing tumours with and without carcinoid syndrome ACTH-producing tumour with Cushing syndrome Pancreatic neuroendocrine carcinoma (poorly differentiated neuroendocrine neoplasm) Mixed neuroendocrine–non-neuroendocrine neoplasms Mixed ductal–neuroendocrine carcinomas Mixed acinar–neuroendocrine carcinomas
233 234

235 238 238 239

7 Inherited tumour syndromes

Introduction

241

242 243 248 253 255 257
Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2 Multiple endocrine neoplasia type 4 Hyperparathyroidism–jaw tumour syndrome Von Hippel–Lindau syndrome Familial paraganglioma–phaeochromocytoma syndromes caused by SDHB, SDHC, and SDHD mutations Neurofibromatosis type 1 Carney complex McCune–Albright syndrome
262 266 269 272 275 275
Familial non-medullary thyroid cancer Cowden syndrome and PTEN-related lesions Familial adenomatous polyposis and APC-related lesions 276 Non-syndromic familial thyroid cancer Werner syndrome and Carney complex DICER1 syndrome
277 278 280

  • 282
  • Glucagon cell hyperplasia and neoplasia

  • Contributors
  • 285

295 296 297 300 301 347 355
Declaration of interests IARC/WHO Committee for the ICD-O Sources of figures Sources of tables References Subject index List of abbreviations

Recommended publications
  • Thyroid Research Biomed Central

    Thyroid Research Biomed Central

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  • California Tumor Tissue Registry

    California Tumor Tissue Registry

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  • Evaluation of Head and Neck Masses in Adults

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    Evaluation of Head and Neck Masses in Adults Kristi Chang, MD Associate Professor Department of Otolaryngology-Head and Neck Surgery University of Iowa Hospitals and Clinics Annual Refresher Course for the Family Physician April 2018 1 Objectives Recognize when practitioners should worry about head and neck adenopathy Identify what are common serious causes of cervical lymphadenopathy and neck masses Understand how location of a neck mass guides differential diagnosis Identify indications warranting a biopsy of a neck mass and referral to an otolaryngologist 2 Neck mass –Background Definition: abnormal lesion that is visible, palpable, or seen on imaging study – can be acquired or congenital Location: – below mandible, above clavicle, deep to skin Etiologies can be varied – Adult neck masses are more likely to be malignant neoplasms – Persistent neck masses should be considered malignant until proven otherwise 3 Neck Mass - History What is the Age of patient? • Adults > 40 yrs old ~ 80% of neck masses are neoplastic (except thyroid) • Peds neck masses ~ 80% infectious/inflammatory • 16-40 yrs ~ 30% neoplastic, 50% infectious/inflammatory What is the DURATION of the mass? What is the LOCATION of mass? Duration and location are key factors in developing differential diagnosis Any new, persistent lateral neck mass in an adult > 40 yrs old is likely to be malignant Many upper aerodigestive tract cancers present with the chief concern of a painless neck mass 4 Neck Mass - Duration impacts Etiology • Traumatic: hematoma, vascular injury • Infectious/Inflammatory: • adenopathy from viral or bacterial infection . ACUTE : onset over days • odontogenic . more likely to be symptomatic • salivary gland • Neoplastic process more likely: • metastatic from upper aerodigestive • tract mucosa .
  • Endocrine Pathology (537-577)

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    LABORATORY INVESTIGATION THE BASIC AND TRANSLATIONAL PATHOLOGY RESEARCH JOURNAL LI VOLUME 99 | SUPPLEMENT 1 | MARCH 2019 2019 ABSTRACTS ENDOCRINE PATHOLOGY (537-577) MARCH 16-21, 2019 PLATF OR M & 2 01 9 ABSTRACTS P OSTER PRESENTATI ONS EDUCATI ON C O M MITTEE Jason L. Hornick , C h air Ja mes R. Cook R h o n d a K. Y a nti s s, Chair, Abstract Revie w Board S ar a h M. Dr y and Assign ment Co m mittee Willi a m C. F a q ui n Laura W. La mps , Chair, C ME Subco m mittee C ar ol F. F ar v er St e v e n D. Billi n g s , Interactive Microscopy Subco m mittee Y uri F e d ori w Shree G. Shar ma , Infor matics Subco m mittee Meera R. Ha meed R aj a R. S e et h al a , Short Course Coordinator Mi c h ell e S. Hir s c h Il a n W ei nr e b , Subco m mittee for Unique Live Course Offerings Laksh mi Priya Kunju D a vi d B. K a mi n s k y ( Ex- Of ici o) A n n a M ari e M ulli g a n Aleodor ( Doru) Andea Ri s h P ai Zubair Baloch Vi nita Parkas h Olca Bast urk A nil P ar w a ni Gregory R. Bean , Pat h ol o gist-i n- Trai ni n g D e e p a P atil D a ni el J.
  • A Comprehensive Review on MEN2B

    A Comprehensive Review on MEN2B

    25 2 Endocrine-Related F Castinetti et al. Multiple endocrine neoplasia 25:2 T29–T39 Cancer type 2B THEMATIC REVIEW A comprehensive review on MEN2B Frederic Castinetti1, Jeffrey Moley2, Lois Mulligan3 and Steven G Waguespack4 1Department of Endocrinology, Aix Marseille University, CNRS UM 7286, Assistance Publique Hopitaux de Marseille, Marseille, France 2Department of Surgery, Washington University School of Medicine, St Louis, Missouri, USA 3Division of Cancer Biology and Genetics, Cancer Research Institute, Queen’s University, Kingston, Ontario, Canada 4Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA Correspondence should be addressed to F Castinetti: [email protected] This paper is part of a thematic review section on 25 Years of RET and MEN2. The guest editors for this section were Lois Mulligan and Frank Weber. Abstract MEN2B is a very rare autosomal dominant hereditary tumor syndrome associated with Key Words medullary thyroid carcinoma (MTC) in 100% cases, pheochromocytoma in 50% cases and f medullary thyroid cancer multiple extra-endocrine features, many of which can be quite disabling. Only few data f pheochromocytoma are available in the literature. The aim of this review is to try to give further insights into f ganglioneuromas the natural history of the disease and to point out the missing evidence that would help f RET clinicians optimize the management of such patients. MEN2B is mainly characterized by f marfanoid the early occurrence of MTC, which led the American Thyroid Association to recommend preventive thyroidectomy before the age of 1 year. However, as the majority of mutations are de novo, improved knowledge of the nonendocrine signs would help to lower the age of diagnosis and improve long-term outcomes.
  • (MEN2) the Risk

    (MEN2) the Risk

    What you should know about Multiple Endocrine Neoplasia Type 2 (MEN2) MEN2 is a condition caused by mutations in the RET gene. Approximately 25% (1 in 4) individuals with medullary thyroid cancer have a mutation in the RET gene. Individuals with RET mutations may also develop tumors in their parathyroid and adrenal glands (pheochromocytoma). There are three types of MEN2, based on the family history and specific mutation found in the RET gene: • MEN2A is the most common type of MEN2, with medullary thyroid cancer developing in young adulthood. MEN2A is also associated with adrenal and parathyroid tumors. • MEN2B is the most aggressive form of MEN2, with medullary thyroid cancer developing in early childhood. MEN2B is associated with adrenal tumors, but parathyroid tumors are rare. Individuals with MEN2B can also develop benign nodules on their lips and tongue, abnormalities of the gastrointestinal tract, and are usually tall in comparison to their family members. • Familial Medullary Thyroid Cancer (FMTC) is characterized by medullary thyroid cancer (usually in young adulthood) without adrenal or parathyroid tumors. The risk for cancer associated with MEN2 • MEN2A is associated with a ~100% risk for medullary thyroid cancer; 50% risk of adrenal tumors; and 25% risk of parathyroid tumors • MEN2B is associated with a 100% risk for medullary thyroid cancer; 50% risk of adrenal tumors; and rare risk of parathyroid tumors • FMTC is associated with ~ 100% risk for medullary thyroid cancer; and no risk for adrenal or parathyroid tumors Tumors that develop in the adrenal glands in individuals with MEN2 are typically not cancerous, but can produce excessive amounts of hormones called catecholamines, which can cause very high blood pressure.
  • Multiple Endocrine Neoplasia Type 1 (MEN1)

    Multiple Endocrine Neoplasia Type 1 (MEN1)

    Lab Management Guidelines V1.0.2020 Multiple Endocrine Neoplasia Type 1 (MEN1) MOL.TS.285.A v1.0.2020 Introduction Multiple Endocrine Neoplasia Type 1 (MEN1) is addressed by this guideline. Procedures addressed The inclusion of any procedure code in this table does not imply that the code is under management or requires prior authorization. Refer to the specific Health Plan's procedure code list for management requirements. Procedures addressed by this Procedure codes guideline MEN1 Known Familial Mutation Analysis 81403 MEN1 Deletion/Duplication Analysis 81404 MEN1 Full Gene Sequencing 81405 What is Multiple Endocrine Neoplasia Type 1 Definition Multiple Endocrine Neoplasia Type 1 (MEN1) is an autosomal dominant disorder characterized by the development of multiple endocrine and non-endrocrine tumors. Incidence or Prevalence MEN1 has a prevalence of 1/10,000 to 1/100,000 individuals.1 Symptoms The presenting symptom in approximately 90% of individuals with MEN1 is primary hyperparathyroidism (PHPT). Parathyroid tumors cause overproduction of parathyroid hormone which leads to hypercalcemia. The average age of onset is 20-25 years. Parathyroid carcinomas are rare in individuals with MEN1.2,3,4 Pituitary tumors are seen in 30-40% of individuals and are the first clinical manifestation in 10% of familial cases and 25% of simplex cases. Tumors are typically solitary and there is no increased prevalence of pituitary carcinoma in individuals with MEN1.2,5 © 2020 eviCore healthcare. All Rights Reserved. 1 of 8 400 Buckwalter Place Boulevard, Bluffton, SC 29910 (800) 918-8924 www.eviCore.com Lab Management Guidelines V1.0.2020 Prolactinomas are the most commonly seen pituitary subtype and account for 60% of pituitary adenomas.
  • Endocrine Surgery Goals and Objectives

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  • Genetic Landscape of Papillary Thyroid Carcinoma and Nuclear Architecture: an Overview Comparing Pediatric and Adult Populations

    Genetic Landscape of Papillary Thyroid Carcinoma and Nuclear Architecture: an Overview Comparing Pediatric and Adult Populations

    cancers Review Genetic Landscape of Papillary Thyroid Carcinoma and Nuclear Architecture: An Overview Comparing Pediatric and Adult Populations 1, 2, 2 3 Aline Rangel-Pozzo y, Luiza Sisdelli y, Maria Isabel V. Cordioli , Fernanda Vaisman , Paola Caria 4,*, Sabine Mai 1,* and Janete M. Cerutti 2 1 Cell Biology, Research Institute of Oncology and Hematology, University of Manitoba, CancerCare Manitoba, Winnipeg, MB R3E 0V9, Canada; [email protected] 2 Genetic Bases of Thyroid Tumors Laboratory, Division of Genetics, Department of Morphology and Genetics, Universidade Federal de São Paulo/EPM, São Paulo, SP 04039-032, Brazil; [email protected] (L.S.); [email protected] (M.I.V.C.); [email protected] (J.M.C.) 3 Instituto Nacional do Câncer, Rio de Janeiro, RJ 22451-000, Brazil; [email protected] 4 Department of Biomedical Sciences, University of Cagliari, 09042 Cagliari, Italy * Correspondence: [email protected] (P.C.); [email protected] (S.M.); Tel.: +1-204-787-2135 (S.M.) These authors contributed equally to this paper. y Received: 29 September 2020; Accepted: 26 October 2020; Published: 27 October 2020 Simple Summary: Papillary thyroid carcinoma (PTC) represents 80–90% of all differentiated thyroid carcinomas. PTC has a high rate of gene fusions and mutations, which can influence clinical and biological behavior in both children and adults. In this review, we focus on the comparison between pediatric and adult PTC, highlighting genetic alterations, telomere-related genomic instability and changes in nuclear organization as novel biomarkers for thyroid cancers. Abstract: Thyroid cancer is a rare malignancy in the pediatric population that is highly associated with disease aggressiveness and advanced disease stages when compared to adult population.
  • Ganglioneuroblastoma As Vasoactive Intestinal Polypeptide-Secreting10.5005/Jp-Journals-10002-1167 Tumor: Rare Case Report in a Child Case Report

    Ganglioneuroblastoma As Vasoactive Intestinal Polypeptide-Secreting10.5005/Jp-Journals-10002-1167 Tumor: Rare Case Report in a Child Case Report

    WJOES Ganglioneuroblastoma as Vasoactive Intestinal Polypeptide-secreting10.5005/jp-journals-10002-1167 Tumor: Rare Case Report in a Child CASE REPORT Ganglioneuroblastoma as Vasoactive Intestinal Polypeptide-secreting Tumor: Rare Case Report in a Child 1Basant Kumar, 2Vijai D Upadhyaya, 3Ram Nawal Rao, 4Sheo Kumar ABSTRACT than 60 cases of pediatric VIP-secreting tumors.3 Most Pathologically elevated vasoactive intestinal polypeptide (VIP) of them are either adrenal pheochromocytoma or mixed plasma levels cause secretory diarrhea with excessive loss of pheochromocytoma-ganglioneuroma tumors. Mason water and electrolyte and is characterized by the typical symp- et al,4 first described the secretory nature of neuroblas- toms of hypokalemia and metabolic acidosis. It rarely occurs toma and vasoactive intestinal peptide (VIP) can be in patients with non-pancreatic disease. Despite the clinical severity, diagnosis of a VIP-secreting tumor is often delayed. produced by the mature neurogenic tumors. We herein We herein present a 14-month-old boy having prolonged present a 14 months old boy having prolonged therapy- therapy-resistant secretory diarrhea, persistent hypokalemia resistant secretory diarrhea, persistent hypokalemia with with tissue diagnosis of ganglioneuroblastoma and raised plasma VIP-levels. tissue diagnosis of ganglioneuroblastoma and briefly review the literature. Keywords: Ganglioneuroblastoma, Secretory diarrhea, VIPoma. CASE REPORT How to cite this article: Kumar B, Upadhyaya VD, Rao RN, Kumar S. Ganglioneuroblastoma as Vasoactive Intestinal A 14-month-old boy, weighing 9 kg with advanced symp- Polypeptide-secreting Tumor: Rare Case Report in a Child. World J Endoc Surg 2015;7(2):47-50. toms of persistent secretory diarrhea, hypokalemia and metabolic acidosis was referred to us with radiological Source of support: Nil (computed tomography) diagnosis of retroperitoneal Conflict of interest: None mass.
  • Neuroendocrine Tumors of the Pancreas (Including Insulinoma, Gastrinoma, Glucogacoma, Vipoma, Somatostatinoma)

    Neuroendocrine Tumors of the Pancreas (Including Insulinoma, Gastrinoma, Glucogacoma, Vipoma, Somatostatinoma)

    Neuroendocrine tumors of the pancreas (including insulinoma, gastrinoma, glucogacoma, VIPoma, somatostatinoma) Neuroendocrine pancreatic tumors (pancreatic NETs or pNETs) account for about 3% of all primary pancreatic tumors. They develop in neuroendocrine cells called islet cells. Neuroendocrine tumors of the pancreas may be nonfunctional (not producing hormones) or functional (producing hormones). Most pNETs do not produce hormones and, as a result, these tumors are diagnosed incidentally or after their growth causes symptoms such as abdominal pain, jaundice or liver metastasis. pNETs that produce hormones are named according to the type of hormone they produce and / or clinical manifestation: Insulinoma - An endocrine tumor originating from pancreatic beta cells that secrete insulin. Increased insulin levels in the blood cause low glucose levels in blood (hypoglycemia) with symptoms that may include sweating, palpitations, tremor, paleness, and later unconsciousness if treatment is delayed. These are usually benign and tend to be small and difficult to localize. Gastrinoma - a tumor that secretes a hormone called gastrin, which causes excess of acid secretion in the stomach. As a result, severe ulcerative disease and diarrhea may develop. Most gastrinomas develop in parts of the digestive tract that includes the duodenum and the pancreas, called "gastrinoma triangle". These tumors have the potential to be malignant. Glucagonoma is a rare tumor that secretes the hormone glucagon, which may cause a typical skin rash called migratory necrolytic erythema, elevated glucose levels, weight loss, diarrhea and thrombotic events. VIPoma - a tumor that secretes Vasoactive peptide (VIP) hormone causing severe diarrhea. The diagnosis is made by finding a pancreatic neuroendocrine tumor with elevated VIP hormone in the blood and typical clinical symptoms.
  • Validation of Algorithms to Identify Pancreatic Cancer and Thyroid Neoplasms from Health Insurance Claims Data in a 10-Year Foll

    Validation of Algorithms to Identify Pancreatic Cancer and Thyroid Neoplasms from Health Insurance Claims Data in a 10-Year Foll

    Validation of Algorithms to Identify Pancreatic Cancer and Thyroid Neoplasms From Health Insurance Claims Data in a 10-Year Follow-Up Study Caihua Liang, MD, PhD1*; Monica L Bertoia, MPH, PhD1; C Robin Clifford, MS1; Yan Ding, MSc1; Qing Qiao, MD, PhD2; Joshua J Gagne, PharmD, ScD1,3; David D Dore, PharmD, PhD1 1Optum Epidemiology, Boston, MA/Ann Arbor, MI, USA; 2Global Medical Affair AstraZeneca, Gothenburg, Sweden; 3Division of Pharmacoepidemiology, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, USA. *Corresponding author: [email protected]. This study was funded through a research contract between Optum Epidemiology and AstraZeneca. Background Methods (cont.) Identification of cancer events in health insurance claims data can be Figure 1. Pancreatic cancer and thyroid neoplasm relaxed and restricted challenging and subject to misclassification. Given the low incidence of algorithms certain cancers, robust performance evaluation requires a large sample size PANCREATIC CANCER THYROID NEOPLASMS with long-term follow-up. ICD-9 Codes ICD-9 Codes (Malignant neoplasm of …) 193 Malignant neoplasm of thyroid gland 157.X … pancreas 226 Benign neoplasm of thyroid gland Objective 157.0 … head of pancreas 157.1 … body of pancreas Thyroid Cancer Benign Thyroid Neoplasm To validate algorithms for potential incident pancreatic cancer and thyroid 157.2 … tail of pancreas neoplasms in a 10-year follow-up study using a health insurance claims 157.3 … pancreatic duct Restricted Algorithm: Restricted Algorithm: 157.4 … islets of Langerhans a+b+c a+b+c database. 157.8 … other specified sites of Relaxed Algorithm: Relaxed Algorithm: pancreas a+b or a+c a+b or a+c 157.9 … pancreas, part unspecified Data Source a.