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Diagnostic Pathology: Familial Cancer Syndromes. Edition: 2

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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.

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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

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    • Stock Last Checked
      Apr 13, 2024
  • Manufacturer
  • Publication Date
    Mar 26, 2020
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