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
Multiple Endocrine Neoplasia Type 5, MAX-Related
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
Neuroblastic Tumors of Adrenal Gland
SDH-Deficient Pheochromocytoma and Paraganglioma
Adrenal Medulla and Paraganglia Table
PANCREAS
MAFA-Related Familial Insulinomatosis
Pancreatic Neuroendocrine Neoplasms
Endocrine Pancreas Table
PARATHYROID
Primary Multiglandular Parathyroid Disease
Atypical Parathyroid Tumor
Parathyroid Adenoma
Parathyroid Carcinoma
Primary Parathyroid Hyperplasia
Parathyroid Table
PITUITARY
Pituitary Blastoma
Pituitary Adenoma
Primary Pituitary Hyperplasia
Pituitary Table
THYROID, MEDULLARY
Thyroid Follicular Nodular Disease
Follicular Thyroid Adenoma with Papillary Architecture
Thyroblastoma
Kinase Fusion-Related Thyroid Carcinomas
Follicular Cell-Derived Thyroid Carcinoma, High Grade
Cribriform Morular Thyroid Carcinoma
Syndromic Familial Follicular Cell-Derived Thyroid Tumors
Nonsyndromic Familial Follicular Cell-Derived Thyroid Tumors
C-Cell Hyperplasia
Medullary Thyroid Carcinoma
Thyroid, Medullary Carcinoma Table
THYROID, NONMEDULLARY
Follicular Thyroid Carcinoma
Thyroid, Nonmedullary Carcinoma Table
Section 5: Gastrointestinal
HEPATOBILIARY AND PANCREAS
Hepatoblastoma
Hepatocellular Carcinoma
Pancreatic Adenocarcinoma
Biliary Tract/Liver/Pancreas Table
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
HLRCC Syndrome-Associated Renal Cell Carcinoma
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
Eye
Peripheral Nervous System
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
Brooke-Spiegler Syndrome
Carney Complex
Colonic Carcinoma Syndromes
Costello Syndrome
Gastrointestinal Involvement in PTEN-Hamartoma Tumor Syndrome
Denys-Drash Syndrome
Diamond-Blackfan Anemia
DICER1 Syndrome
Down Syndrome
Dyskeratosis Congenita
Familial Acute Myeloid Leukemia and Myelodysplastic Syndrome
Familial Adenomatous Polyposis
Familial Cancer Syndromes in Colorectal Carcinoma
Familial Chordoma
Familial Gastrointestinal Stromal Tumor
Familial Infantile Myofibromatosis
Familial Isolated Hyperparathyroidism
Familial Nonmedullary Thyroid Carcinoma
Familial Paraganglioma Pheochromocytoma Syndrome
Familial Testicular Tumor
Familial Uveal Melanoma
Familial Wilms Tumor
Fanconi Anemia
Glucagon Cell Hyperplasia and Neoplasia
Breast/Ovarian Cancer Syndrome: BRCA1
Breast/Ovarian Cancer Syndrome: BRCA2
Hamartomatous Polyps, Cronkhite-Canada
Juvenile Polyposis Syndrome
Hamartomatous Polyps, Peutz-Jeghers
Hereditary Diffuse Gastric Cancer
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome
Hereditary Mixed Polyposis Syndrome
Multiple Osteochondromas
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
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)
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)
MUTYH-Associated Polyposis
Neurofibromatosis Type 1
Neurofibromatosis Type 2
Nijmegen Breakage Syndrome
Pancreatic Neuroendocrine Tumor Syndromes
Hamartomatous Polyps, Peutz-Jeghers
PTEN Hamartoma Tumor Syndromes
RASopathies: Noonan Syndrome
Rhabdoid Predisposition Syndrome
Schwannomatosis
Serrated Polyposis
Shwachman-Diamond Syndrome
Tumor Syndromes Predisposing to Osteosarcoma
von Hippel-Lindau Syndrome
Werner Syndrome/Progeria
Wilms Tumor-Associated Syndromes
Wiskott-Aldrich Syndrome
Xeroderma Pigmentosum
Epidermodysplasia Verruciformis
Steatocystoma Multiplex
Tuberous Sclerosis Complex
Part III: Reference
Section 1: Molecular Factors
Molecular Factors Index