DIAGNOSTIC PATHOLOGY: FAMILIAL CANCER SYNDROMES. 2ND EDITION

I. Diagnosis Associated With Syndromes by Organ
Breast
Breast Carcinoma, Female
Breast Carcinoma, Male
Breast Table
• Blood and Bone Marrow
Acute Lymphoblastic Leukemia and Non-Hodgkin Lymphoma
Acute Myeloid Leukemia and Myelodysplastic Syndrome
Blood and Bone Marrow Table
• Bone and Soft Tissue
Chondrosarcoma
Chordoma
Malignant Peripheral Nerve Sheath Tumor
Osteosarcoma
Rhabdomyosarcoma
Schwannoma
Bone and Soft Tissue Table
• Head and Neck
Endolymphatic Sac Tumor
Squamous Cell Carcinoma
Head and Neck Table
Salivary Glands Table
• Endocrine
Adrenal Cortex
Adrenal Cortical Adenoma
Adrenal Cortical Carcinoma
Adrenal Cortical Neoplasms in Children
Primary Pigmented Nodular Adrenocortical Disease
Adrenal Cortex Table
Adrenal Medulla and Paraganglia
Adrenal Medullary Hyperplasia
Neuroblastoma
Pheochromocytoma and Paraganglioma
Adrenal Medulla and Paraganglia Table
Pancreas
Pancreatic Neuroendocrine Neoplasms
Pancreas Table
Parathyroid
Parathyroid Adenoma
Parathyroid Carcinoma
Parathyroid Hyperplasia
Parathyroid Table
Pituitary
Pituitary Adenoma
Pituitary Hyperplasia
Pituitary Table
Thyroid, Medullary
C-Cell Hyperplasia
Medullary Thyroid Carcinoma
Thyroid, Medullary Table
Thyroid, Nonmedullary
Familial Thyroid Carcinoma
Follicular Thyroid Carcinoma
Thyroid, Nonmedullary Table
• Gastrointestinal
Tubular Gut
Colon Adenoma
Esophageal Adenocarcinoma
Esophageal Squamous Cell Carcinoma
Gastric Adenocarcinoma
Gastrointestinal Stromal Tumor
Hamartomatous Polyps of GI Tract
Small Bowel Adenocarcinoma
Colon/Rectum Table
Esophagus/Stomach/Small Bowel Table
Tubular Gut Table
Hepatobiliary and Pancreas
Biliary Tract Neoplasia
Hepatoblastoma
Hepatocellular Carcinoma
Pancreatic Adenocarcinoma
Biliary Tract/Liver/Pancreas Table
Hepatobiliary and Pancreas Table
• Genitourinary
Bladder
Bladder Table
Kidney
Angiomyolipoma
Clear Cell Renal Cell Carcinoma
HLRCC Syndrome-Associated Renal Cell Carcinoma
Papillary Renal Cell Carcinoma
Renal Oncocytoma, Chromophobe, and Hybrid Tumors
Wilms Tumor
Kidney Table
Prostate
Prostate Table
Renal Pelvis and Ureter
Renal Pelvis and Ureter Table
Testicle
Germ Cell Tumor
Sertoli Cell Neoplasms
Testicle Table
• Gynecology
Cervical Tumors
Fallopian Tube Tumors
Ovarian Tumors
Uterine Tumors
Cervix
Endometrium
Fallopian Tube
Ovary
• Nervous System
Central Nervous System
Eye
Peripheral Nervous System
• Pulmonary
Adenocarcinoma, Lung
Adenocarcinoma With Lepidic (Bronchioloalveolar) Predominant Pattern
Lymphangioleiomyomatosis
Neuroendocrine Carcinoma, Lung
Pleuropulmonary Blastoma
Lung Table
• Skin
BAP1-Inactivated Melanocytic Tumor
Basal Cell Carcinoma
Cutaneous Melanoma
Cutaneous Squamous Cell Carcinoma
Sebaceous Carcinoma
Skin Table
II. Overview of Syndromes
• Introduction
Pathology of Familial Tumor Syndromes
Clinical Diagnosis and Management of Familial/Hereditary Tumor Syndromes
Molecular Aspects of Familial/Hereditary Tumor Syndromes
• Syndromes
Ataxia Telangiectasia
BAP1 Tumor Predisposition Syndrome
Basal Cell Nevus Syndrome/Gorlin Syndrome
Beckwith-Wiedemann Syndrome
Birt-Hogg-Dubé Syndrome
Bloom Syndrome
Brooke-Spiegler Syndrome
Carney Complex
Costello Syndrome
Cystic Nephroma Syndrome
Denys-Drash Syndrome
Diamond-Blackfan Anemia
DICER1 Syndrome
Down Syndrome
Dyskeratosis Congenita
Familial Acute Myeloid Leukemia and Myelodysplastic Syndrome
Familial Adenomatous Polyposis
Familial Chordoma
Familial Gastrointestinal Stromal Tumor
Familial Infantile Myofibromatosis
Familial Isolated Hyperparathyroidism
Familial Medullary Thyroid Carcinoma
Familial Nonmedullary Thyroid Carcinoma
Familial Paraganglioma-Pheochromocytoma Syndrome
Familial Testicular Tumor
Familial Uveal Melanoma
Familial Wilms Tumor
Fanconi Anemia
GATA2 Spectrum Disorders
Glucagon Cell Hyperplasia and Neoplasia
Hereditary Breast/Ovarian Cancer Syndrome: BRCA1
Hereditary Breast/Ovarian Cancer Syndrome: BRCA2
Hereditary Diffuse Gastric Cancer
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC)
Hereditary Multiple Exostosis
Hereditary Neuroblastoma
Hereditary Pancreatic Cancer Syndrome
Hereditary Papillary Renal Cell Carcinoma
Hereditary Paraganglioma/Pheochromocytoma Syndromes
Hereditary Prostate Cancer
Hereditary Renal Epithelial Tumors, Others
Hereditary Retinoblastoma
Hereditary SWI/SNF Complex Deficiency Syndromes
Heritable Gastrointestinal Stromal Tumors Syndromes
Howel-Evans Syndrome/Keratosis Palmares and Plantares With Esophageal Cancer
Hyperparathyroidism-Jaw Tumor Syndrome
Juvenile Polyposis Syndrome
Li-Fraumeni Syndrome/Li-Fraumeni-Like Syndrome
Lynch Syndrome
McCune-Albright Syndrome
Melanoma/Pancreatic Carcinoma Syndrome
Multiple Endocrine Neoplasia Type 1 (MEN1)
Multiple Endocrine Neoplasia Type 2 (MEN2)
Multiple Endocrine Neoplasia Type 4 (MEN4)
MYH-Associated Polyposis
Neurofibromatosis Type 1
Neurofibromatosis Type 2
Nijmegen Breakage Syndrome
Pancreatic Neuroendocrine Tumor Syndromes
*PDGFRA*-Mutant Syndrome
Peutz-Jeghers Syndrome
PTEN Hamartoma Tumor Syndromes
RASopathies: Noonan Syndrome
Rhabdoid Predisposition Syndrome
Schwannomatosis
Shwachman-Diamond Syndrome
Steatocystoma Multiplex
Succinate Dehydrogenase (SDH)-Deficient Renal Cell Carcinoma
Tuberous Sclerosis Complex
Tumor Syndromes Predisposing to Osteosarcoma
von Hippel-Lindau Syndrome
Werner Syndrome/Progeria
Wilms Tumor-Associated Syndrome
Wiskott-Aldrich Syndrome
Xeroderma Pigmentosum
• Reference
Molecular Factors
Molecular Factors Index

This expert volume in the Diagnostic Pathology series is an excellent point-of-care resource for practitioners at all levels of experience and training. Physicians should have the knowledge derived from morphological findings to identify the likelihood of a cancer patient having an additional underlying familial syndrome- and to decide if that patient should undergo molecular genetic evaluation. This volume is specifically designed to help pathologists, oncologists, and other physicians who diagnose and treat cancer to recognize syndromes and syndrome- associated neoplasms and advise patients and their families on the possibility of a familial syndrome and their risk of developing other tumors. Diagnostic Pathology: Familial Cancer Syndromes, second edition, is an easy-to-use, one-stop reference for information on hereditary cancer syndromes, including differential diagnosis and management, that offers a templated, highly formatted design; concise, bulleted text; and superior color images throughout.

Author
Vania Nosé, MD, PhD, Associate Chief of Pathology, Director of Anatomic and Molecular Pathology, Massachusetts General Hospital, Professor of Pathology, Harvard Medical School, Boston, Massachusetts