This expert volume in the Diagnostic Pathology series is an up-to-date, comprehensive diagnostic support tool for pathologists, oncologists, and other physicians who diagnose and treat patients with cancer. An excellent point-of-care reference for practitioners at all levels of experience and training, the third edition of Diagnostic Pathology: Familial Cancer Syndromes offers clinically useful information on hereditary cancer syndromes, including differential diagnosis and management. Richly illustrated and easy to use, this volume is ideal as a one-stop resource for day-to-day reference or as a reliable training tool.
Key Features
- Helps physicians recognize syndromes and syndrome-associated neoplasms and advise treating physicians, patients, and their families on the possibility of a familial syndrome and their risk of developing other tumors
- Addresses a wide range of inherited tumor syndromes to increase understanding of the gross and histologic features of syndromic-associated neoplasms as well as associated manifestations
- Part I includes nearly 100 detailed chapters describing diagnoses by organ and system associated with familial cancer syndromes; Part II contains more than 80 chapters with detailed descriptions of major inherited syndromes (cross-referenced with diagnoses); and Part III features an updated Molecular Factors Index that includes a complete description of each known gene associated with a familial cancer syndrome
- Includes substantial updates throughout, with more than a dozen new chapters, new images and references, updated guidelines and classifications based on the 2025 WHO Classification of Tumours: Genetic Tumour Syndromes, details on the newest familial cancer syndromes, and more
- Contains hundreds of tables organized by body part and/or organ system that include selected existing genetic and familial cancers and identified associated genes, clinical features, recognized manifestations, and staging images/microscopic examples
- Features nearly 2,300 print and online images, including clinical and radiologic images, algorithms, graphics, gross pathology and histology images, and a wide range of special and immunohistochemical stains and molecular markers―all carefully annotated to highlight the most diagnostically significant factors
- Employs consistently templated chapters, bulleted content, key facts, annotated images, and an extensive index for quick, expert reference at the point of care
- Includes an eBook version that enables you to access all text, figures, and references, with the ability to search, customize your content, make notes and highlights, and have content read aloud; additional digital ancillary content may publish up to 6 weeks following the publication date
Author Information
By Vania Nosé, MD, PhD, Professor of Pathology, Harvard Medical School, Pathologist and Consultant in Endocrine Pathology and Familial Syndromes, Massachusetts General Hospital, Boston, Massachusetts, USA
PART I: DIAGNOSES ASSOCIATED WITH SYNDROMES BY ORGAN
Section 1: Blood and Bone Marrow
Acute Lymphoblastic Leukemia and Non-Hodgkin Lymphoma
Blood and Bone Marrow Table
Section 2: Bone and Soft Tissue
Chondrosarcoma
Chordoma
Malignant Peripheral Nerve Sheath Tumor
Osteosarcoma
Rhabdomyosarcoma
Schwannoma
Bone and Soft Tissue Table
Section 3: Breast
Breast Carcinoma
Breast Table
Section 4: Endocrine
ADRENAL CORTEX
Adrenal Cortical Adenoma
Adrenal Cortical Carcinoma
Adrenal Cortical Neoplasms in Children
Adrenocortical Hyperplasia and Adrenocortical
Nodular Disease
Primary Pigmented Nodular Adrenocortical Disease
Adrenal Cortex Table
ADRENAL MEDULLA AND PARAGANGLIA
Adrenal Medullary Hyperplasia
Pheochromocytoma and Paraganglioma
Neuroblastic Tumors of Adrenal Gland
Adrenal Medulla and Paraganglia Table
PANCREAS
Pancreatic Neuroendocrine Neoplasms
Endocrine Pancreas Table
PARATHYROID
Atypical Parathyroid Tumor
Parathyroid Adenoma
Parathyroid Carcinoma
Primary Multiglandular Parathyroid Disease
Parathyroid Table
PITUITARY
Pituitary Blastoma
Pituitary Neuroendocrine Tumor/Pituitary Adenoma (PitNET)
Pituitary Table
THYROID, MEDULLARY
C-Cell Hyperplasia
Medullary Thyroid Carcinoma
Thyroid, Medullary Carcinoma Table
THYROID, NONMEDULLARY
Thyroid Follicular Nodular Disease
Follicular Thyroid Adenoma With Papillary Architecture
Thyroblastoma
Kinase Fusion-Related Thyroid Carcinomas
Nonsyndromic Familial Follicular Cell-Derived Thyroid Carcinoma
Syndromic Familial Follicular Cell-Derived Thyroid Carcinoma
Cribriform Morular Thyroid Carcinoma
Follicular Cell-Derived Thyroid Carcinoma, High Grade
Follicular Thyroid Carcinoma
Thyroid, Nonmedullary Carcinoma Table
Section 5: Gastrointestinal
HEPATOBILIARY AND PANCREAS
Hepatoblastoma
Hepatocellular Carcinoma
Pancreatic Adenocarcinoma
TUBULAR GUT
Colonic Adenomas
Esophageal Adenocarcinoma
Esophageal Squamous Cell Carcinoma
Gastric Adenocarcinoma
Gastrointestinal Stromal Tumor
Hamartomatous Polyposis Syndromes
Small Bowel Adenocarcinoma
Colon/Rectum Table
Esophagus/Stomach/Small Bowel Table
Section 6: Genitourinary
BLADDER
Bladder Urothelial Carcinoma
Bladder Table
KIDNEY
Angiomyolipoma
Clear Cell Renal Cell Carcinoma
Cystic Nephroma
Papillary Renal Cell Carcinoma
Renal Oncocytoma, Chromophobe, and Hybrid Tumors
Succinate Dehydrogenase-Deficient Renal Cell Carcinoma
Wilms Tumor
Kidney Table
PROSTATE
Prostate Carcinoma
Prostate Table
RENAL PELVIS AND URETER
Renal Urothelial Carcinoma
Ureter Urothelial Carcinoma
Renal Pelvis and Ureter Table
TESTICLE
Germ Cell Tumor
Sertoli Cell Neoplasms
Testicle Table
Section 7: Gynecology
Cervical Carcinoma
Fallopian Tube Carcinoma
Ovarian Tumors
Endometrial Carcinoma
Gynecologic Tumors
Section 8: Head and Neck
Endolymphatic Sac Tumor
Head and Neck Squamous Cell Carcinoma
Head and Neck Table
Salivary Glands Table
Section 9: Nervous System
Central Nervous System Table
Eye Table
Peripheral Nervous System Table
Section 10: Pulmonary
Adenocarcinoma, Lung
Adenocarcinoma With Lepidic (Bronchioloalveolar) Predominant Pattern
Lymphangioleiomyomatosis
Neuroendocrine Tumor, Lung
Pleuropulmonary Blastoma
Lung Table
Section 11: Skin
BAP1-Inactivated Melanocytic Tumor
Basal Cell Carcinoma
Cutaneous Melanoma
Cutaneous Squamous Cell Carcinoma
Sebaceous Carcinoma
Skin Table
PART II: OVERVIEW OF SYNDROMES
Section 1: Introduction
Pathology of Familial Tumor Syndromes
Clinical Diagnosis and Management of Familial/Hereditary Tumor Syndromes
Molecular Aspects of Familial/Hereditary Tumor Syndromes
Section 2: Syndromes
Ataxia-Telangiectasia
BAP1 Tumor Predisposition Syndrome
Basal Cell Nevus Syndrome/Gorlin Syndrome
Beckwith-Wiedemann Syndrome
Birt-Hogg-Dubé Syndrome
Bloom Syndrome
Breast/Ovarian Cancer Syndrome: BRCA1
Breast/Ovarian Cancer Syndrome: BRCA2
Brooke-Spiegler Syndrome
Carney Complex
Colonic Carcinoma Syndromes
Costello Syndrome
Denys-Drash Syndrome
Diamond-Blackfan Anemia
DICER1 Syndrome
Down Syndrome
Dyskeratosis Congenita
Epidermodysplasia Verruciformis
Hematologic Neoplasm With Germline Predisposition
Familial Adenomatous Polyposis
Familial Cancer Syndromes in Colorectal Carcinoma
Familial Chordoma
Familial Gastrointestinal Stromal Tumor
Familial and Hereditary Papillary Renal Cell Carcinoma
Familial and Hereditary Prostate Cancer
Familial Infantile Myofibromatosis
Familial Isolated Hyperparathyroidism
Familial Thyroid Carcinoma
Familial Pheochromocytoma and Paraganglioma Syndrome
Familial Testicular Tumor
Familial Uveal Melanoma
Familial Wilms Tumor
Fanconi Anemia
Glucagon Cell Hyperplasia and Neoplasia
Hereditary Gastric and Breast Cancer Syndrome
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome
Hereditary Mixed Polyposis Syndrome
Hereditary Neuroblastoma
Hereditary Pancreatic Cancer Syndrome
Hereditary Paraganglioma/Pheochromocytoma Syndromes
Hereditary Renal Epithelial Tumors, Others
Hereditary Retinoblastoma
Hereditary SWI/SNF Complex Deficiency Syndromes
HLRCC Syndrome-Associated Renal Cell Carcinoma
Howel-Evans Syndrome/Keratosis Palmares and Plantares With Esophageal Cancer
Hyperparathyroidism-Jaw Tumor Syndrome
Juvenile Polyposis Syndrome
Li-Fraumeni Syndrome
Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer Syndrome)
MAFA-Related Familial Insulinomatosis
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)
Multiple Endocrine Neoplasia Type 5, MAX-Related
Multiple Osteochondromas
MUTYH-Associated Polyposis
Neurofibromatosis Type 1
NF2-Related Schwannomatosis
Nijmegen Breakage Syndrome
Pancreatic Neuroendocrine Tumor Syndromes
Hamartomatous Polyps, Peutz-Jeghers Syndrome
PTEN-Hamartoma Tumor Syndromes
PTEN-Hamartoma Tumor Syndrome: Gastrointestinal Involvement
RASopathies: Noonan Syndrome
Rhabdoid Predisposition Syndrome
Schwannomatosis
Serrated Polyposis
Shwachman-Diamond Syndrome
Steatocystoma Multiplex
Tuberous Sclerosis Complex
Tumor Syndromes Predisposing to Osteosarcoma
von Hippel-Lindau Syndrome
Werner Syndrome/Progeria
Wilms Tumor-Associated Syndromes
Wiskott-Aldrich Syndrome
Xeroderma Pigmentosum
PART III: REFERENCE
Section 1: Molecular Factors
Molecular Factors Index
