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Diagnostic Pathology: Familial Cancer Syndromes

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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.

  • 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

1. SECTION 1: INTRODUCTION - p. 473 2. Chapter 92: Pathology of Familial Tumor Syndromes - p. 473 3. Chapter 93: Clinical Diagnosis and Management of Familial/Hereditary Tumor Syndromes - p. 483 4. Chapter 94: Molecular Aspects of Familial/Hereditary Tumor Syndromes - p. 493 5. SECTION 2: SYNDROMES - p. 499 6. Chapter 95: Ataxia Telangiectasia - p. 499 7. Chapter 96: BAP1 Tumor Predisposition Syndrome - p. 503 8. Chapter 97: Basal Cell Nevus Syndrome/Gorlin Syndrome - p. 505 9. Chapter 98: Beckwith-Wiedemann Syndrome - p. 509 10. Chapter 99: Birt-Hogg-Dubé Syndrome - p. 517 11. Chapter 100: Bloom Syndrome - p. 521 12. Chapter 101: Brooke-Spiegler Syndrome - p. 523 13. Chapter 102: Carney Complex - p. 527 14. Chapter 103: Colonic Carcinoma Syndromes - p. 535 15. Chapter 104: Costello Syndrome - p. 539 16. Chapter 105: Denys-Drash Syndrome - p. 541 17. Chapter 106: Diamond-Blackfan Anemia - p. 545 18. Chapter 107: DICER1 Syndrome - p. 547 19. Chapter 108: Down Syndrome - p. 555 20. Chapter 109: Dyskeratosis Congenita - p. 559 21. Chapter 110: Familial Acute Myeloid Leukemia and Myelodysplastic Syndrome - p. 563 22. Chapter 111: Familial Adenomatous Polyposis - p. 567 23. Chapter 112: Familial Chordoma - p. 575 24. Chapter 113: Familial Gastrointestinal Stromal Tumor - p. 577 25. Chapter 114: Familial Infantile Myofibromatosis - p. 583 26. Chapter 115: Familial Isolated Hyperparathyroidism - p. 585 27. Chapter 116: Familial Nonmedullary Thyroid Carcinoma - p. 589 28. Chapter 117: Familial Paraganglioma Pheochromocytoma Syndrome - p. 595 29. Chapter 118: Familial Testicular Tumor - p. 599 30. Chapter 119: Familial Uveal Melanoma - p. 601 31. Chapter 120: Familial Wilms Tumor - p. 603 32. Chapter 121: Fanconi Anemia - p. 605 33. Chapter 122: Glucagon Cell Hyperplasia and Neoplasia - p. 607 34. Chapter 123: Breast/Ovarian Cancer Syndrome: BRCA1 - p. 609 35. Chapter 124: Breast/Ovarian Cancer Syndrome: BRCA2 - p. 615 36. Chapter 125: Hereditary Diffuse Gastric Cancer - p. 619 37. Chapter 126: Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome - p. 623 38. Chapter 127: Hereditary Mixed Polyposis Syndrome - p. 627 39. Chapter 128: Multiple Osteochondromas - p. 629 40. Chapter 129: Hereditary Neuroblastoma - p. 631 41. Chapter 130: Hereditary Pancreatic Cancer Syndrome - p. 635 42. Chapter 131: Hereditary Papillary Renal Cell Carcinoma - p. 639 43. Chapter 132: Hereditary Paraganglioma/Pheochromocytoma Syndromes - p. 641 44. Chapter 133: Hereditary Prostate Cancer - p. 649 45. Chapter 134: Hereditary Renal Epithelial Tumors, Others - p. 651 46. Chapter 135: Hereditary Retinoblastoma - p. 655 47. Chapter 136: Hereditary SWI/SNF Complex Deficiency Syndromes - p. 657 48. Chapter 137: Howel-Evans Syndrome/Keratosis Palmares and Plantares With Esophageal Cancer - p. 659 49. Chapter 138: Hyperparathyroidism-Jaw Tumor Syndrome - p. 661 50. Chapter 139: Juvenile Polyposis Syndrome - p. 667 51. Chapter 140: Li-Fraumeni Syndrome - p. 673 52. Chapter 141: Lynch Syndrome - p. 679 53. Chapter 142: McCune-Albright Syndrome - p. 685 54. Chapter 143: Melanoma/Pancreatic Carcinoma Syndrome - p. 691 55. Chapter 144: Multiple Endocrine Neoplasia Type 1 (MEN1) - p. 695 56. Chapter 145: Multiple Endocrine Neoplasia Type 2 (MEN2) - p. 703 57. Chapter 146: Multiple Endocrine Neoplasia Type 4 (MEN4) - p. 711 58. Chapter 147: MUTYH-Associated Polyposis - p. 717 59. Chapter 148: Neurofibromatosis Type 1 - p. 719 60. Chapter 149: Neurofibromatosis Type 2 - p. 727 61. Chapter 150: Nijmegen Breakage Syndrome - p. 733 62. Chapter 151: Pancreatic Neuroendocrine Tumor Syndromes - p. 735 63. Chapter 152: Hamartomatous Polyps, Peutz-Jeghers - p. 743 64. Chapter 153: PTEN-Hamartoma Tumor Syndromes - p. 749 65. Chapter 154: RASopathies: Noonan Syndrome - p. 757 66. Chapter 155: Rhabdoid Predisposition Syndrome - p. 761 67. Chapter 156: Schwannomatosis - p. 765 68. Chapter 157: Shwachman-Diamond Syndrome - p. 769 69. Chapter 158: Steatocystoma Multiplex - p. 771 70. Chapter 159: Tuberous Sclerosis Complex - p. 773 71. Chapter 160: Tumor Syndromes Predisposing to Osteosarcoma - p. 779 72. Chapter 161: von Hippel-Lindau Syndrome - p. 781 73. Chapter 162: Werner Syndrome/Progeria - p. 789 74. Chapter 163: Wilms Tumor-Associated Syndromes - p. 793 75. Chapter 164: Wiskott-Aldrich Syndrome - p. 795 76. Chapter 165: Xeroderma Pigmentosum - p. 797 77. Part III: Reference - p. 801 78. SECTION 1: MOLECULAR FACTORS - p. 801 79. Chapter 166: Molecular Factors Index - p. 801 80. INDEX - p. 823

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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.

  • 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

1. SECTION 1: INTRODUCTION - p. 473 2. Chapter 92: Pathology of Familial Tumor Syndromes - p. 473 3. Chapter 93: Clinical Diagnosis and Management of Familial/Hereditary Tumor Syndromes - p. 483 4. Chapter 94: Molecular Aspects of Familial/Hereditary Tumor Syndromes - p. 493 5. SECTION 2: SYNDROMES - p. 499 6. Chapter 95: Ataxia Telangiectasia - p. 499 7. Chapter 96: BAP1 Tumor Predisposition Syndrome - p. 503 8. Chapter 97: Basal Cell Nevus Syndrome/Gorlin Syndrome - p. 505 9. Chapter 98: Beckwith-Wiedemann Syndrome - p. 509 10. Chapter 99: Birt-Hogg-Dubé Syndrome - p. 517 11. Chapter 100: Bloom Syndrome - p. 521 12. Chapter 101: Brooke-Spiegler Syndrome - p. 523 13. Chapter 102: Carney Complex - p. 527 14. Chapter 103: Colonic Carcinoma Syndromes - p. 535 15. Chapter 104: Costello Syndrome - p. 539 16. Chapter 105: Denys-Drash Syndrome - p. 541 17. Chapter 106: Diamond-Blackfan Anemia - p. 545 18. Chapter 107: DICER1 Syndrome - p. 547 19. Chapter 108: Down Syndrome - p. 555 20. Chapter 109: Dyskeratosis Congenita - p. 559 21. Chapter 110: Familial Acute Myeloid Leukemia and Myelodysplastic Syndrome - p. 563 22. Chapter 111: Familial Adenomatous Polyposis - p. 567 23. Chapter 112: Familial Chordoma - p. 575 24. Chapter 113: Familial Gastrointestinal Stromal Tumor - p. 577 25. Chapter 114: Familial Infantile Myofibromatosis - p. 583 26. Chapter 115: Familial Isolated Hyperparathyroidism - p. 585 27. Chapter 116: Familial Nonmedullary Thyroid Carcinoma - p. 589 28. Chapter 117: Familial Paraganglioma Pheochromocytoma Syndrome - p. 595 29. Chapter 118: Familial Testicular Tumor - p. 599 30. Chapter 119: Familial Uveal Melanoma - p. 601 31. Chapter 120: Familial Wilms Tumor - p. 603 32. Chapter 121: Fanconi Anemia - p. 605 33. Chapter 122: Glucagon Cell Hyperplasia and Neoplasia - p. 607 34. Chapter 123: Breast/Ovarian Cancer Syndrome: BRCA1 - p. 609 35. Chapter 124: Breast/Ovarian Cancer Syndrome: BRCA2 - p. 615 36. Chapter 125: Hereditary Diffuse Gastric Cancer - p. 619 37. Chapter 126: Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome - p. 623 38. Chapter 127: Hereditary Mixed Polyposis Syndrome - p. 627 39. Chapter 128: Multiple Osteochondromas - p. 629 40. Chapter 129: Hereditary Neuroblastoma - p. 631 41. Chapter 130: Hereditary Pancreatic Cancer Syndrome - p. 635 42. Chapter 131: Hereditary Papillary Renal Cell Carcinoma - p. 639 43. Chapter 132: Hereditary Paraganglioma/Pheochromocytoma Syndromes - p. 641 44. Chapter 133: Hereditary Prostate Cancer - p. 649 45. Chapter 134: Hereditary Renal Epithelial Tumors, Others - p. 651 46. Chapter 135: Hereditary Retinoblastoma - p. 655 47. Chapter 136: Hereditary SWI/SNF Complex Deficiency Syndromes - p. 657 48. Chapter 137: Howel-Evans Syndrome/Keratosis Palmares and Plantares With Esophageal Cancer - p. 659 49. Chapter 138: Hyperparathyroidism-Jaw Tumor Syndrome - p. 661 50. Chapter 139: Juvenile Polyposis Syndrome - p. 667 51. Chapter 140: Li-Fraumeni Syndrome - p. 673 52. Chapter 141: Lynch Syndrome - p. 679 53. Chapter 142: McCune-Albright Syndrome - p. 685 54. Chapter 143: Melanoma/Pancreatic Carcinoma Syndrome - p. 691 55. Chapter 144: Multiple Endocrine Neoplasia Type 1 (MEN1) - p. 695 56. Chapter 145: Multiple Endocrine Neoplasia Type 2 (MEN2) - p. 703 57. Chapter 146: Multiple Endocrine Neoplasia Type 4 (MEN4) - p. 711 58. Chapter 147: MUTYH-Associated Polyposis - p. 717 59. Chapter 148: Neurofibromatosis Type 1 - p. 719 60. Chapter 149: Neurofibromatosis Type 2 - p. 727 61. Chapter 150: Nijmegen Breakage Syndrome - p. 733 62. Chapter 151: Pancreatic Neuroendocrine Tumor Syndromes - p. 735 63. Chapter 152: Hamartomatous Polyps, Peutz-Jeghers - p. 743 64. Chapter 153: PTEN-Hamartoma Tumor Syndromes - p. 749 65. Chapter 154: RASopathies: Noonan Syndrome - p. 757 66. Chapter 155: Rhabdoid Predisposition Syndrome - p. 761 67. Chapter 156: Schwannomatosis - p. 765 68. Chapter 157: Shwachman-Diamond Syndrome - p. 769 69. Chapter 158: Steatocystoma Multiplex - p. 771 70. Chapter 159: Tuberous Sclerosis Complex - p. 773 71. Chapter 160: Tumor Syndromes Predisposing to Osteosarcoma - p. 779 72. Chapter 161: von Hippel-Lindau Syndrome - p. 781 73. Chapter 162: Werner Syndrome/Progeria - p. 789 74. Chapter 163: Wilms Tumor-Associated Syndromes - p. 793 75. Chapter 164: Wiskott-Aldrich Syndrome - p. 795 76. Chapter 165: Xeroderma Pigmentosum - p. 797 77. Part III: Reference - p. 801 78. SECTION 1: MOLECULAR FACTORS - p. 801 79. Chapter 166: Molecular Factors Index - p. 801 80. INDEX - p. 823

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