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Diagnostic Pathology: Familial Cancer Syndromes

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The new edition of Diagnostic Pathology: Familial Cancer Syndromes (DP3: Familial Cancers) is designed to help pathologists and oncologists distinguish familial tumors from their sporadic counterparts and advise patients regarding their possible risk of developing other tumors. The specific clinical, gross, microscopic, imaging, and molecular findings that form the backbone of DP3: Familial Cancers help physicians who diagnose and treat cancer accomplish this, ensuring that a possible syndromic association is not missed. Amid growing interest in hereditary/familial cancer syndromes within all pathology subspecialties, DP3: Familial Cancers is structured to present a significant number of its 180+ chapters by organ and organs involved by syndrome. The graphics-rich environment of DP3: Familial Cancers features thousands of images (including classic radiologic images to broaden the perspective), as well as informative, full-color medical illustrations and flowcharts. The book also 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 to bolster the information. The book 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.

  • 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 more than 100 detailed chapters describing diagnoses by organ and system associated with familial cancer syndromes; Part II contains more than 70 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 more than 2,200 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

1. Section 1: Introduction - p. 543 2. Chapter 99: Pathology of Familial Tumor Syndromes - p. 543 3. Chapter 100: Clinical Diagnosis and Management of Familial/Hereditary Tumor Syndromes - p. 553 4. Chapter 101: Molecular Aspects of Familial/Hereditary Tumor Syndromes - p. 563 5. Section 2: Syndromes - p. 569 6. Chapter 102: Ataxia-Telangiectasia - p. 569 7. Chapter 103: BAP1 Tumor Predisposition Syndrome - p. 573 8. Chapter 104: Basal Cell Nevus Syndrome/Gorlin Syndrome - p. 575 9. Chapter 105: Beckwith-Wiedemann Syndrome - p. 579 10. Chapter 106: Birt-Hogg-Dubé Syndrome - p. 587 11. Chapter 107: Bloom Syndrome - p. 591 12. Chapter 108: Breast/Ovarian Cancer Syndrome: BRCA1 - p. 593 13. Chapter 109: Breast/Ovarian Cancer Syndrome: BRCA2 - p. 599 14. Chapter 110: Brooke-Spiegler Syndrome - p. 603 15. Chapter 111: Carney Complex - p. 607 16. Chapter 112: Colonic Carcinoma Syndromes - p. 615 17. Chapter 113: Costello Syndrome - p. 619 18. Chapter 114: Denys-Drash Syndrome - p. 621 19. Chapter 115: Diamond-Blackfan Anemia - p. 625 20. Chapter 116: DICER1 Syndrome - p. 627 21. Chapter 117: Down Syndrome - p. 637 22. Chapter 118: Dyskeratosis Congenita - p. 641 23. Chapter 119: Epidermodysplasia Verruciformis - p. 645 24. Chapter 120: Hematologic Neoplasm with Germline Predisposition - p. 647 25. Chapter 121: Familial Adenomatous Polyposis - p. 651 26. Chapter 122: Familial Cancer Syndromes in Colorectal Carcinoma - p. 657 27. Chapter 123: Familial Chordoma - p. 659 28. Chapter 124: Familial Gastrointestinal Stromal Tumor - p. 661 29. Chapter 125: Familial and Hereditary Papillary Renal Cell Carcinoma - p. 667 30. Chapter 126: Familial and Hereditary Prostate Cancer - p. 669 31. Chapter 127: Familial Infantile Myofibromatosis - p. 671 32. Chapter 128: Familial Isolated Hyperparathyroidism - p. 673 33. Chapter 129: Familial Thyroid Carcinoma - p. 677 34. Chapter 130: Familial Pheochromocytoma and Paraganglioma Syndrome - p. 685 35. Chapter 131: Familial Testicular Tumor - p. 691 36. Chapter 132: Familial Uveal Melanoma - p. 693 37. Chapter 133: Familial Wilms Tumor - p. 695 38. Chapter 134: Fanconi Anemia - p. 697 39. Chapter 135: Glucagon Cell Hyperplasia and Neoplasia - p. 699 40. Chapter 136: Hereditary Gastric and Breast Cancer Syndrome - p. 703 41. Chapter 137: Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome - p. 709 42. Chapter 138: Hereditary Mixed Polyposis Syndrome - p. 713 43. Chapter 139: Hereditary Neuroblastoma - p. 715 44. Chapter 140: Hereditary Pancreatic Cancer Syndrome - p. 719 45. Chapter 141: Hereditary Paraganglioma/Pheochromocytoma Syndromes - p. 723 46. Chapter 142: Hereditary Renal Epithelial Tumors, Others - p. 731 47. Chapter 143: Hereditary Retinoblastoma - p. 735 48. Chapter 144: Hereditary SWI/SNF Complex Deficiency Syndromes - p. 737 49. Chapter 145: HLRCC Syndrome-Associated Renal Cell Carcinoma - p. 739 50. Chapter 146: Howel-Evans Syndrome/Keratosis Palmares and Plantares with Esophageal Cancer - p. 743 51. Chapter 147: Hyperparathyroidism-Jaw Tumor Syndrome - p. 745 52. Chapter 148: Juvenile Polyposis Syndrome - p. 753 53. Chapter 149: Li-Fraumeni Syndrome - p. 759 54. Chapter 150: Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer Syndrome) - p. 765 55. Chapter 151: MAFA-Related Familial Insulinomatosis - p. 767 56. Chapter 152: McCune-Albright Syndrome - p. 769 57. Chapter 153: Melanoma/Pancreatic Carcinoma Syndrome - p. 775 58. Chapter 154: Multiple Endocrine Neoplasia Type 1 (MEN1) - p. 779 59. Chapter 155: Multiple Endocrine Neoplasia Type 2 (MEN2) - p. 787 60. Chapter 156: Multiple Endocrine Neoplasia Type 4 (MEN4) - p. 795 61. Chapter 157: Multiple Endocrine Neoplasia Type 5, MAX-Related - p. 801 62. Chapter 158: Multiple Osteochondromas - p. 803 63. Chapter 159: MUTYH-Associated Polyposis - p. 805 64. Chapter 160: Neurofibromatosis Type 1 - p. 807 65. Chapter 161: NF2-Related Schwannomatosis - p. 815 66. Chapter 162: Nijmegen Breakage Syndrome - p. 821 67. Chapter 163: Pancreatic Neuroendocrine Tumor Syndromes - p. 823 68. Chapter 164: Hamartomatous Polyps, Peutz-Jeghers Syndrome - p. 833 69. Chapter 165: PTEN-Hamartoma Tumor Syndromes - p. 839 70. Chapter 166: PTEN-Hamartoma Tumor Syndrome: Gastrointestinal Involvement - p. 847 71. Chapter 167: RASopathies: Noonan Syndrome - p. 855 72. Chapter 168: Rhabdoid Predisposition Syndrome - p. 859 73. Chapter 169: Schwannomatosis - p. 863 74. Chapter 170: Serrated Polyposis - p. 867 75. Chapter 171: Shwachman-Diamond Syndrome - p. 871 76. Chapter 172: Steatocystoma Multiplex - p. 873 77. Chapter 173: Tuberous Sclerosis Complex - p. 875 78. Chapter 174: Tumor Syndromes Predisposing to Osteosarcoma - p. 881 79. Chapter 175: von Hippel-Lindau Syndrome - p. 883 80. Chapter 176: Werner Syndrome/Progeria - p. 893 81. Chapter 177: Wilms Tumor-Associated Syndromes - p. 897 82. Chapter 178: Wiskott-Aldrich Syndrome - p. 899 83. Chapter 179: Xeroderma Pigmentosum - p. 901 84. Part III: Reference - p. 905 85. Section 1: Molecular Factors - p. 905 86. Chapter 180: Molecular Factors Index - p. 905 87. Index - p. 927

Descripcion
Descripción

The new edition of Diagnostic Pathology: Familial Cancer Syndromes (DP3: Familial Cancers) is designed to help pathologists and oncologists distinguish familial tumors from their sporadic counterparts and advise patients regarding their possible risk of developing other tumors. The specific clinical, gross, microscopic, imaging, and molecular findings that form the backbone of DP3: Familial Cancers help physicians who diagnose and treat cancer accomplish this, ensuring that a possible syndromic association is not missed. Amid growing interest in hereditary/familial cancer syndromes within all pathology subspecialties, DP3: Familial Cancers is structured to present a significant number of its 180+ chapters by organ and organs involved by syndrome. The graphics-rich environment of DP3: Familial Cancers features thousands of images (including classic radiologic images to broaden the perspective), as well as informative, full-color medical illustrations and flowcharts. The book also 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 to bolster the information. The book 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.

  • 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 more than 100 detailed chapters describing diagnoses by organ and system associated with familial cancer syndromes; Part II contains more than 70 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 more than 2,200 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

1. Section 1: Introduction - p. 543 2. Chapter 99: Pathology of Familial Tumor Syndromes - p. 543 3. Chapter 100: Clinical Diagnosis and Management of Familial/Hereditary Tumor Syndromes - p. 553 4. Chapter 101: Molecular Aspects of Familial/Hereditary Tumor Syndromes - p. 563 5. Section 2: Syndromes - p. 569 6. Chapter 102: Ataxia-Telangiectasia - p. 569 7. Chapter 103: BAP1 Tumor Predisposition Syndrome - p. 573 8. Chapter 104: Basal Cell Nevus Syndrome/Gorlin Syndrome - p. 575 9. Chapter 105: Beckwith-Wiedemann Syndrome - p. 579 10. Chapter 106: Birt-Hogg-Dubé Syndrome - p. 587 11. Chapter 107: Bloom Syndrome - p. 591 12. Chapter 108: Breast/Ovarian Cancer Syndrome: BRCA1 - p. 593 13. Chapter 109: Breast/Ovarian Cancer Syndrome: BRCA2 - p. 599 14. Chapter 110: Brooke-Spiegler Syndrome - p. 603 15. Chapter 111: Carney Complex - p. 607 16. Chapter 112: Colonic Carcinoma Syndromes - p. 615 17. Chapter 113: Costello Syndrome - p. 619 18. Chapter 114: Denys-Drash Syndrome - p. 621 19. Chapter 115: Diamond-Blackfan Anemia - p. 625 20. Chapter 116: DICER1 Syndrome - p. 627 21. Chapter 117: Down Syndrome - p. 637 22. Chapter 118: Dyskeratosis Congenita - p. 641 23. Chapter 119: Epidermodysplasia Verruciformis - p. 645 24. Chapter 120: Hematologic Neoplasm with Germline Predisposition - p. 647 25. Chapter 121: Familial Adenomatous Polyposis - p. 651 26. Chapter 122: Familial Cancer Syndromes in Colorectal Carcinoma - p. 657 27. Chapter 123: Familial Chordoma - p. 659 28. Chapter 124: Familial Gastrointestinal Stromal Tumor - p. 661 29. Chapter 125: Familial and Hereditary Papillary Renal Cell Carcinoma - p. 667 30. Chapter 126: Familial and Hereditary Prostate Cancer - p. 669 31. Chapter 127: Familial Infantile Myofibromatosis - p. 671 32. Chapter 128: Familial Isolated Hyperparathyroidism - p. 673 33. Chapter 129: Familial Thyroid Carcinoma - p. 677 34. Chapter 130: Familial Pheochromocytoma and Paraganglioma Syndrome - p. 685 35. Chapter 131: Familial Testicular Tumor - p. 691 36. Chapter 132: Familial Uveal Melanoma - p. 693 37. Chapter 133: Familial Wilms Tumor - p. 695 38. Chapter 134: Fanconi Anemia - p. 697 39. Chapter 135: Glucagon Cell Hyperplasia and Neoplasia - p. 699 40. Chapter 136: Hereditary Gastric and Breast Cancer Syndrome - p. 703 41. Chapter 137: Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome - p. 709 42. Chapter 138: Hereditary Mixed Polyposis Syndrome - p. 713 43. Chapter 139: Hereditary Neuroblastoma - p. 715 44. Chapter 140: Hereditary Pancreatic Cancer Syndrome - p. 719 45. Chapter 141: Hereditary Paraganglioma/Pheochromocytoma Syndromes - p. 723 46. Chapter 142: Hereditary Renal Epithelial Tumors, Others - p. 731 47. Chapter 143: Hereditary Retinoblastoma - p. 735 48. Chapter 144: Hereditary SWI/SNF Complex Deficiency Syndromes - p. 737 49. Chapter 145: HLRCC Syndrome-Associated Renal Cell Carcinoma - p. 739 50. Chapter 146: Howel-Evans Syndrome/Keratosis Palmares and Plantares with Esophageal Cancer - p. 743 51. Chapter 147: Hyperparathyroidism-Jaw Tumor Syndrome - p. 745 52. Chapter 148: Juvenile Polyposis Syndrome - p. 753 53. Chapter 149: Li-Fraumeni Syndrome - p. 759 54. Chapter 150: Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer Syndrome) - p. 765 55. Chapter 151: MAFA-Related Familial Insulinomatosis - p. 767 56. Chapter 152: McCune-Albright Syndrome - p. 769 57. Chapter 153: Melanoma/Pancreatic Carcinoma Syndrome - p. 775 58. Chapter 154: Multiple Endocrine Neoplasia Type 1 (MEN1) - p. 779 59. Chapter 155: Multiple Endocrine Neoplasia Type 2 (MEN2) - p. 787 60. Chapter 156: Multiple Endocrine Neoplasia Type 4 (MEN4) - p. 795 61. Chapter 157: Multiple Endocrine Neoplasia Type 5, MAX-Related - p. 801 62. Chapter 158: Multiple Osteochondromas - p. 803 63. Chapter 159: MUTYH-Associated Polyposis - p. 805 64. Chapter 160: Neurofibromatosis Type 1 - p. 807 65. Chapter 161: NF2-Related Schwannomatosis - p. 815 66. Chapter 162: Nijmegen Breakage Syndrome - p. 821 67. Chapter 163: Pancreatic Neuroendocrine Tumor Syndromes - p. 823 68. Chapter 164: Hamartomatous Polyps, Peutz-Jeghers Syndrome - p. 833 69. Chapter 165: PTEN-Hamartoma Tumor Syndromes - p. 839 70. Chapter 166: PTEN-Hamartoma Tumor Syndrome: Gastrointestinal Involvement - p. 847 71. Chapter 167: RASopathies: Noonan Syndrome - p. 855 72. Chapter 168: Rhabdoid Predisposition Syndrome - p. 859 73. Chapter 169: Schwannomatosis - p. 863 74. Chapter 170: Serrated Polyposis - p. 867 75. Chapter 171: Shwachman-Diamond Syndrome - p. 871 76. Chapter 172: Steatocystoma Multiplex - p. 873 77. Chapter 173: Tuberous Sclerosis Complex - p. 875 78. Chapter 174: Tumor Syndromes Predisposing to Osteosarcoma - p. 881 79. Chapter 175: von Hippel-Lindau Syndrome - p. 883 80. Chapter 176: Werner Syndrome/Progeria - p. 893 81. Chapter 177: Wilms Tumor-Associated Syndromes - p. 897 82. Chapter 178: Wiskott-Aldrich Syndrome - p. 899 83. Chapter 179: Xeroderma Pigmentosum - p. 901 84. Part III: Reference - p. 905 85. Section 1: Molecular Factors - p. 905 86. Chapter 180: Molecular Factors Index - p. 905 87. Index - p. 927

Indice
Autores
Muestra
Ficha Técnica