Diagnostic Pathology: Familial Cancer Syndromes

Front Cover
Diagnostic Pathology: Familial Cancer Syndromes
Table of Contents
Copyright Page
Dedication
Contributing Authors
Preface
Acknowledgments
Part I: Diagnoses Associated With Syndromes by Organ
Section 1: Blood and Bone Marrow
Chapter 1. Acute Lymphoblastic Leukemia and Non-Hodgkin Lymphoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MICROSCOPIC
ANCILLARY TESTS!
SELECTED REFERENCES
Chapter 2. Blood and Bone Marrow Table
Section 2: Bone and Soft Tissue
Chapter 3. Chondrosarcoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 4. Chordoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 5. Malignant Peripheral Nerve Sheath Tumor
TERMINOLOGY
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 6. Osteosarcoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 7. Rhabdomyosarcoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
ANCILLARY TESTS
SELECTED REFERENCES
Chapter 8. Schwannoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 9. Bone and Soft Tissue Table
SELECTED REFERENCES
Section 3: Breast
Chapter 10. Breast Carcinoma
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
REPORTING
SELECTED REFERENCES
Chapter 11. Breast Table
Section 4: Endocrine
Chapter 12. Adrenal Cortical Adenoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
SELECTED REFERENCES
Chapter 13. Adrenal Cortical Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
STAGING
SELECTED REFERENCES
Chapter 14. Adrenal Cortical Neoplasms in Children
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 15. Primary Pigmented Nodular Adrenocortical Disease
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 16. Adrenal Cortex Table
Chapter 17. Adrenal Medullary Hyperplasia
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 18. Neuroblastic Tumors of Adrenal Gland
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 19. Pheochromocytoma and Paraganglioma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 20. Adrenal Medulla and Paraganglia Table
Chapter 21. Pancreatic Neuroendocrine Neoplasms
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 22. Endocrine Pancreas Table
Chapter 23. Parathyroid Adenoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 24. Parathyroid Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 25. Primary Parathyroid Hyperplasia
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 26. Parathyroid Table
Chapter 27. Pituitary Adenoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 28. Pituitary Hyperplasia
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 29. Pituitary Table
Chapter 30. C-Cell Hyperplasia
TERMINOLOGY
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 31. Medullary Thyroid Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 32. Thyroid, Medullary Carcinoma Table
Chapter 33. Familial Thyroid Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 34. Follicular Thyroid Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 35. Thyroid, Nonmedullary Carcinoma Table
Section 5: Gastrointestinal
Chapter 36. Hepatobiliary and Pancreas
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 37. Hepatocellular Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MOLECULAR
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 38. Pancreatic Adenocarcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MOLECULAR
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 39. Biliary Tract/Liver/Pancreas Table
Chapter 40. Colonic Adenomas
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MICROSCOPIC
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
REPORTING
SELECTED REFERENCES
Chapter 41. Esophageal Adenocarcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 42. Esophageal Squamous Cell Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 43. Gastric Adenocarcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MICROSCOPIC
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 44. Gastrointestinal Stromal Tumor
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 45. Hamartomatous Polyposis Syndromes
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 46. Small Bowel Adenocarcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MICROSCOPIC
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 47. Colon/Rectum Table
Chapter 48. Esophagus/Stomach/Small Bowel Table
Section 6: Genitourinary
Chapter 49. Bladder Urothelial Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 50. Bladder Table
Chapter 51. Angiomyolipoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
SELECTED REFERENCES
Chapter 52. Clear Cell Renal Cell Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 53. Cystic Nephroma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 54. HLRCC Syndrome-Associated Renal Cell Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 55. Papillary Renal Cell Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 56. Renal Oncocytoma, Chromophobe, and Hybrid Tumors
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
SELECTED REFERENCES
Chapter 57. Succinate Dehydrogenase-Deficient Renal Cell Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 58. Wilms Tumor
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 59. Kidney Table
Chapter 60. Prostate Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
GRADING
SELECTED REFERENCES
Chapter 61. Prostate Table
Chapter 62. Renal Urothelial Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MICROSCOPIC
ANCILLARY TESTS
SELECTED REFERENCES
Chapter 63. Ureter Urothelial Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
SELECTED REFERENCES
Chapter 64. Renal Pelvis and Ureter Table
Chapter 65. Germ Cell Tumor
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
SELECTED REFERENCES
Chapter 66. Sertoli Cell Neoplasms
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
SELECTED REFERENCES
Chapter 67. Testicle Table
Section 7: Gynecology
Chapter 68. Cervical Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
SELECTED REFERENCES
Chapter 69. Fallopian Tube Carcinoma
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
SELECTED REFERENCES
Chapter 70. Ovarian Tumors
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
SELECTED REFERENCES
Chapter 71. Endometrial Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 72. Gynecologic Tumors
Section 8: Head and Neck
Chapter 73. Endolymphatic Sac Tumor
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 74. Head and Neck Squamous Cell Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 75. Head and Neck Table
Chapter 76. Salivary Glands Table
SELECTED REFERENCES
Section 9: Nervous System
Chapter 77. Central Nervous System
Chapter 78. Eye
Chapter 79. Peripheral Nervous System
DIAGNOSTIC CRITERIA
Section 10: Pulmonary
Chapter 80. Adenocarcinoma, Lung
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 81. Adenocarcinoma With Lepidic (Bronchioloalveolar) Predominant Pattern
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 82. Lymphangioleiomyomatosis
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 83. Neuroendocrine Tumor, Lung
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 84. Pleuropulmonary Blastoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
SELECTED REFERENCES
Chapter 85. Lung Table
Section 11: Skin
Chapter 86. BAP1-Inactivated Melanocytic Tumor
TERMINOLOGY
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
SELECTED REFERENCES
Chapter 87. Basal Cell Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 88. Cutaneous Melanoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MICROSCOPIC
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 89. Cutaneous Squamous Cell Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 90. Sebaceous Carcinoma
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 91. Skin Table
PART II: Overview of Syndromes
Section 1: Introduction
Chapter 92. Pathology of Familial Tumor Syndromes
INTRODUCTION
HEREDITARY SYNDROMES ASSOCIATED WITH NEOPLASIA
ENDOCRINE SYSTEM
GENITOURINARY TRACT
GASTROINTESTINAL TRACT
SKIN
BREAST
HEMATOLOGY
LUNG
HEAD AND NECK
CENTRAL NERVOUS SYSTEM
BONE AND SOFT TISSUE
GYNECOLOGY
SELECTED REFERENCES
Chapter 93. Clinical Diagnosis and Management of Familial/Hereditary Tumor Syndromes
INTRODUCTION
CANCER SUSCEPTIBILITY TESTING
DIAGNOSIS
SELECTED REFERENCES
Chapter 94. Molecular Aspects of Familial/Hereditary Tumor Syndromes
OVERVIEW OF HEREDITARY CANCER
GENETICS OF FAMILIAL CANCER
GENETIC VARIANTS
CLINICAL TESTING OF GENETIC VARIANTS
CLINICAL REPORTING OF GENETIC VARIANTS
SELECTED REFERENCES
Section 2: Syndromes
Chapter 95. Ataxia Telangiectasia
TERMINOLOGY
EPIDEMIOLOGY
CLINICAL IMPLICATIONS
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
NONNEOPLASTIC MANIFESTATIONS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 96. BAP1 Tumor Predisposition Syndrome
TERMINOLOGY
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
DIFFERENTIAL DIAGNOSIS
CRITERIA FOR DIAGNOSIS
SELECTED REFERENCES
Chapter 97. Basal Cell Nevus Syndrome/Gorlin Syndrome
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
CLINICAL IMPLICATIONS AND IMAGING FINDINGS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
DIFFERENTIAL DIAGNOSIS
CRITERIA FOR DIAGNOSIS
SELECTED REFERENCES
Chapter 98. Beckwith-Wiedemann Syndrome
TERMINOLOGY
EPIDEMIOLOGY
CLINICAL IMPLICATIONS
GENETICS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
DIFFERENTIAL DIAGNOSIS
BECKWITH-WIEDEMANN SPECTRUM SCORING SYSTEM
SELECTED REFERENCES
Chapter 99. Birt-Hogg-Dubé Syndrome
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
DIFFERENTIAL DIAGNOSIS
DIAGNOSIS
SELECTED REFERENCES
Chapter 100. Bloom Syndrome
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
ANCILLARY TESTS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
SELECTED REFERENCES
Chapter 101. Brooke-Spiegler Syndrome
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
DIFFERENTIAL DIAGNOSIS
CRITERIA FOR DIAGNOSIS
SELECTED REFERENCES
Chapter 102. Carney Complex
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 103. Colonic Carcinoma Syndromes
TERMINOLOGY
SYNDROMES
SELECTED REFERENCES
Chapter 104. Costello Syndrome
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 105. Denys-Drash Syndrome
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
GENITALIA
RENAL FEATURES
ASSOCIATED NEOPLASMS
OTHER ASSOCIATED FINDINGS
CANCER RISK MANAGEMENT
PROGNOSIS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 106. Diamond-Blackfan Anemia
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
PURE RED BLOOD CELL APLASIAS
DIAGNOSIS
SELECTED REFERENCES
Chapter 107. DICER1 Syndrome
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
MACROSCOPIC
MICROSCOPIC
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 108. Down Syndrome
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
SELECTED REFERENCES
Chapter 109. Dyskeratosis Congenita
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
CRITERIA FOR DIAGNOSIS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 110. Familial Acute Myeloid Leukemia and Myelodysplastic Syndrome
TERMINOLOGY
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
SELECTED REFERENCES
Chapter 111. Familial Adenomatous Polyposis
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 112. Familial Chordoma
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
SELECTED REFERENCES
Chapter 113. Familial Gastrointestinal Stromal Tumor
TERMINOLOGY
EPIDEMIOLOGY
SYNDROMES/GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
SELECTED REFERENCES
Chapter 114. Familial Infantile Myofibromatosis
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
CLINICAL IMPLICATIONS
MACROSCOPIC
MICROSCOPIC
SELECTED REFERENCES
Chapter 115. Familial Isolated Hyperparathyroidism
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED CONDITIONS
CANCER RISK MANAGEMENT
DIAGNOSIS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 116. Familial Nonmedullary Thyroid Carcinoma
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
SELECTED REFERENCES
Chapter 117. Familial Paraganglioma Pheochromocytoma Syndrome
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
IMAGING
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 118. Familial Testicular Tumor
FAMILIAL TESTICULAR GERM CELL TUMORS
FAMILIAL SEX CORD-STROMAL TUMORS
SELECTED REFERENCES
Chapter 119. Familial Uveal Melanoma
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
SELECTED REFERENCES
Chapter 120. Familial Wilms Tumor
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
MACROSCOPIC
MICROSCOPIC
CANCER RISK MANAGEMENT
SELECTED REFERENCES
Chapter 121. Fanconi Anemia
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
ANCILLARY TESTS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
SELECTED REFERENCES
Chapter 122. Glucagon Cell Hyperplasia and Neoplasia
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
SELECTED REFERENCES
Chapter 123. Breast/Ovarian Cancer Syndrome: BRCA1
TERMINOLOGY
INTRODUCTION
EPIDEMIOLOGY
GENETICS
ASSOCIATED NEOPLASMS
SCREENING FOR BRCA1
MEDICAL CARE OF INDIVIDUALS WITH BRCA1 GERMLINE MUTATIONS
SELECTED REFERENCES
Chapter 124. Breast/Ovarian Cancer Syndrome: BRCA2
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
SELECTED REFERENCES
Chapter 125. Hereditary Diffuse Gastric Cancer
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
CLINICAL ISSUES
MICROSCOPIC
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
SELECTED REFERENCES
Chapter 126. Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome
TERMINOLOGY
EPIDEMIOLOGY
CLINICAL IMPLICATIONS
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
SELECTED REFERENCES
Chapter 127. Hereditary Mixed Polyposis Syndrome
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 128. Multiple Osteochondromas
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
MACROSCOPIC
MICROSCOPIC
SELECTED REFERENCES
Chapter 129. Hereditary Neuroblastoma
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
ASSOCIATED SYNDROMES AND NEOPLASMS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
CANCER RISK MANAGEMENT
SELECTED REFERENCES
Chapter 130. Hereditary Pancreatic Cancer Syndrome
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
ETIOLOGY/PATHOGENESIS
CANCER RISK MANAGEMENT
SELECTED REFERENCES
Chapter 131. Hereditary Papillary Renal Cell Carcinoma
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
SELECTED REFERENCES
Chapter 132. Hereditary Paraganglioma/Pheochromocytoma Syndromes
TERMINOLOGY
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
SELECTED REFERENCES
Chapter 133. Hereditary Prostate Cancer
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
PATHOLOGICAL FEATURES
CANCER RISK MANAGEMENT
SELECTED REFERENCES
Chapter 134. Hereditary Renal Epithelial Tumors, Others
TERMINOLOGY
CONSTITUTIONAL CHROMOSOME 3 TRANSLOCATION
FAMILIAL CCRCC
BAP1 TUMOR PREDISPOSITION SYNDROME
FAMILIAL NONCLEAR CELL RCC
PTEN-HAMARTOMA TUMOR SYNDROME
PAPILLARY THYROID CARCINOMA WITH ASSOCIATED NEOPLASIA
FAMILIAL RENAL ONCOCYTOMA
HEREDITARY HYPERPARATHYROIDISM-JAWTUMOR SYNDROME
SELECTED REFERENCES
Chapter 135. Hereditary Retinoblastoma
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
MICROSCOPIC FINDINGS
ASSOCIATED NEOPLASMS
SELECTED REFERENCES
Chapter 136. Hereditary SWI/SNF Complex Deficiency Syndromes
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
MICROSCOPIC
SELECTED REFERENCES
Chapter 137. Howel-Evans Syndrome/Keratosis Palmares and Plantares With Esophageal Cancer
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
DIFFERENTIAL DIAGNOSIS
CRITERIA FOR DIAGNOSIS
SELECTED REFERENCES
Chapter 138. Hyperparathyroidism-Jaw Tumor Syndrome
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
IMAGING
MACROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 139. Juvenile Polyposis Syndrome
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 140. Li-Fraumeni Syndrome
TERMINOLOGY
INTRODUCTION
EPIDEMIOLOGY
GENETICS
ASSOCIATED NEOPLASMS
SCREENING FOR LFS
SELECTED REFERENCES
Chapter 141. Lynch Syndrome
TERMINOLOGY
CLINICAL ISSUES
MICROSCOPIC
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 142. McCune-Albright Syndrome
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
IMAGING
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 143. Melanoma/Pancreatic Carcinoma Syndrome
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 144. Multiple Endocrine Neoplasia Type 1 (MEN1)
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 145. Multiple Endocrine Neoplasia Type 2 (MEN2)
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
IMAGING
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 146. Multiple Endocrine Neoplasia Type 4 (MEN4)
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 147. MUTYH-Associated Polyposis
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
SELECTED REFERENCES
Chapter 148. Neurofibromatosis Type 1
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
MACROSCOPIC
MICROSCOPIC
ANCILLARY TESTS
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 149. Neurofibromatosis Type 2
TERMINOLOGY
EPIDEMIOLOGY
GENETICS AND MOLECULAR BIOLOGY
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED NEOPLASMS
SELECTED REFERENCES
Chapter 150. Nijmegen Breakage Syndrome
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 151. Pancreatic Neuroendocrine Tumor Syndromes
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
MICROSCOPIC
SELECTED REFERENCES
Chapter 152. Hamartomatous Polyps, Peutz-Jeghers
TERMINOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL ISSUES
MACROSCOPIC
MICROSCOPIC
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CHECKLIST
SELECTED REFERENCES
Chapter 153. PTEN-Hamartoma Tumor Syndromes
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED LESIONS AND BENIGN NEOPLASMS
ASSOCIATED MALIGNANT NEOPLASMS
CANCER RISK MANAGEMENT
SELECTED REFERENCES
Chapter 154. RASopathies: Noonan Syndrome
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
DIAGNOSIS
SELECTED REFERENCES
Chapter 155. Rhabdoid Predisposition Syndrome
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
SELECTED REFERENCES
Chapter 156. Schwannomatosis
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
MICROSCOPIC
GENETICS AND MOLECULAR BIOLOGY
SELECTED REFERENCES
Chapter 157. Shwachman-Diamond Syndrome
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
SELECTED REFERENCES
Chapter 158. Steatocystoma Multiplex
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
ASSOCIATED NEOPLASMS
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
Chapter 159. Tuberous Sclerosis Complex
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
NONNEOPLASTIC MANIFESTATIONS
ASSOCIATED NEOPLASMS
SELECTED REFERENCES
Chapter 160. Tumor Syndromes Predisposing to Osteosarcoma
LI-FRAUMENI SYNDROME
HEREDITARY RETINOBLASTOMA
WERNER SYNDROME
ROTHMUND-THOMSON SYNDROME
BLOOM SYNDROME
SELECTED REFERENCES
Chapter 161. von Hippel-Lindau Syndrome
TERMINOLOGY
EPIDEMIOLOGY
GENETICS AND MOLECULAR BIOLOGY
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED NEOPLASMS
DIFFERENTIAL DIAGNOSIS
CANCER RISK MANAGEMENT
SELECTED REFERENCES
Chapter 162. Werner Syndrome/Progeria
TERMINOLOGY
EPIDEMIOLOGY
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
DIFFERENTIAL DIAGNOSIS
DIAGNOSTIC CRITERIA
SELECTED REFERENCES
Chapter 163. Wilms Tumor-Associated Syndromes
TERMINOLOGY
EPIDEMIOLOGY
CLINICAL IMPLICATIONS
WT1-ASSOCIATED SYNDROMES
OVERGROWTH SYNDROMES
SELECTED REFERENCES
Chapter 164. Wiskott-Aldrich Syndrome
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
CLINICAL IMPLICATIONS
MICROSCOPIC
DIAGNOSIS
PROGNOSIS
SELECTED REFERENCES
Chapter 165. Xeroderma Pigmentosum
TERMINOLOGY
EPIDEMIOLOGY
ETIOLOGY/PATHOGENESIS
GENETICS
CLINICAL IMPLICATIONS AND ANCILLARY TESTS
ASSOCIATED NEOPLASMS
CANCER RISK MANAGEMENT
DIFFERENTIAL DIAGNOSIS
SELECTED REFERENCES
PART III: Reference
Section 1: Molecular Factors
Chapter 166. Molecular Factors Index