Diagnostic Pathology: Familial Cancer Syndromes E-Book, 2nd Edition

By Vania Nosé, MD, PhD
Publication Date
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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.

Key Features
  • Contains all the information necessary to determine whether a neoplasm typically encountered in daily practice is sporadic or related to a familial cancer syndrome
  • Features a revised structure to keep you up to date: Part I includes more than 80 detailed chapters describing diagnoses associated with familial cancer syndromes; Part II contains more than 70 chapters with detailed descriptions of major syndromes (cross-referenced with diagnoses); and Part III features a molecular factors index that includes a complete description of each known gene associated with a familial cancer syndrome
  • Contains updated chapters with newly classified GI, neurology, multiple organ, eye, endocrine, GYN, and kidney tumors, as well as more than 20 entirely new chapters covering recently recognized syndromes
  • Incorporates up-to-date molecular findings and their significance for familial cancer syndromes; new techniques and technologies being used to discover gene mutations and other alterations; and details on personalized medicine targeted to specific genes
  • Features more than 2,200 images throughout, including clinical and radiological images, algorithms, graphics, gross pathology, histology, and a wide range of special and immunohistochemical stains-all carefully annotated to highlight the most diagnostically significant factors
  • Features time-saving bulleted text, key facts in each chapter, an extensive index, and numerous tables for quick reference and thorough understanding
ISBN 9780323712057
Product Format Ebook
Publication Date 2020
Author Information By 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
Published Reviews

"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!

Table of Content

I. Diagnosis Associated With Syndromes by Organ


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



Malignant Peripheral Nerve Sheath Tumor




Bone and Soft Tissue Table

Head and Neck

Endolymphatic Sac Tumor

Squamous Cell Carcinoma

Head and Neck Table

Salivary Glands Table


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


Pheochromocytoma and Paraganglioma

Adrenal Medulla and Paraganglia Table


Pancreatic Neuroendocrine Neoplasms

Pancreas Table


Parathyroid Adenoma

Parathyroid Carcinoma

Parathyroid Hyperplasia

Parathyroid Table


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


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


Hepatocellular Carcinoma

Pancreatic Adenocarcinoma

Biliary Tract/Liver/Pancreas Table

Hepatobiliary and Pancreas Table



Bladder Table



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 Table

Renal Pelvis and Ureter

Renal Pelvis and Ureter Table


Germ Cell Tumor

Sertoli Cell Neoplasms

Testicle Table


Cervical Tumors

Fallopian Tube Tumors

Ovarian Tumors

Uterine Tumors



Fallopian Tube


Nervous System

Central Nervous System


Peripheral Nervous System


Adenocarcinoma, Lung

Adenocarcinoma With Lepidic (Bronchioloalveolar) Predominant Pattern


Neuroendocrine Carcinoma, Lung

Pleuropulmonary Blastoma

Lung Table


BAP1-Inactivated Melanocytic Tumor

Basal Cell Carcinoma

Cutaneous Melanoma

Cutaneous Squamous Cell Carcinoma

Sebaceous Carcinoma

Skin Table

II. Overview of Syndromes


Pathology of Familial Tumor Syndromes

Clinical Diagnosis and Management of Familial/Hereditary Tumor Syndromes

Molecular Aspects of Familial/Hereditary Tumor 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


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


Molecular Factors

Molecular Factors Index

Publication Date 14-02-2020
Pages 896
Trim 276 x 216 (8 1/2 x 10 7/8)
deltacomm1code Electronic Book
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