Diagnostic Pathology: Familial Cancer Syndromes

Vania Nosé, MD, PhD, Professor of Pathology, Harvard Medical School, Pathologist and Consultant in Endocrine Pathology and Familial Syndromes, Massachusetts General Hospital, Boston, Massachusetts

• 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 TableII. 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 book, written by world renowned experts in the field, is user-friendly in its well-organized presentation of cancer syndromes grouped by organ systems and serves as a rapid and efficient assistant in the recognition, diagnosis, reporting, and management of these diseases. I highly recommend this book to anyone who diagnoses or treats patients with familial cancer syndromes."-Laura Baugh, D.O., Ph.D. (University of Michigan Medical School) Doody's Review Score: 95-4 Stars!