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Diagnostic Pathology: Familial Cancer Syndromes

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This expert volume in the Diagnostic Pathology series is an up-to-date, comprehensive diagnostic support tool for pathologists, oncologists, and other physicians who diagnose and treat patients with cancer. An excellent point-of-care reference for practitioners at all levels of experience and training, the third edition of Diagnostic Pathology: Familial Cancer Syndromes offers clinically useful information on hereditary cancer syndromes, including differential diagnosis and management. Richly illustrated and easy to use, this volume is ideal as a one-stop resource for day-to-day reference or as a reliable training tool.

  • 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 nearly 100 detailed chapters describing diagnoses by organ and system associated with familial cancer syndromes; Part II contains more than 80 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 nearly 2,300 print and online 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
  • Any additional digital ancillary content may publish up to 6 weeks following the publication date

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

This expert volume in the Diagnostic Pathology series is an up-to-date, comprehensive diagnostic support tool for pathologists, oncologists, and other physicians who diagnose and treat patients with cancer. An excellent point-of-care reference for practitioners at all levels of experience and training, the third edition of Diagnostic Pathology: Familial Cancer Syndromes offers clinically useful information on hereditary cancer syndromes, including differential diagnosis and management. Richly illustrated and easy to use, this volume is ideal as a one-stop resource for day-to-day reference or as a reliable training tool.

  • 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 nearly 100 detailed chapters describing diagnoses by organ and system associated with familial cancer syndromes; Part II contains more than 80 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 nearly 2,300 print and online 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
  • Any additional digital ancillary content may publish up to 6 weeks following the publication date

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