Handbook of Tumor Syndromes

1. Introductory Remarks. Section I: Tumor Syndromes Affecting the Brain, Head, and Lungs. 2. Aicardi syndrome and Klinefelter syndrome. 3. BAP1 Tumor predisposition syndrome. 4. Congenital central hypoventilation syndrome. 5. Familial neuroblastoma. 6. Pleuropulmonary blastoma. 7. Retinoblastoma. 8. Rhabdoid tumor predisposition syndrome. 9. Rubinstein-Taybi syndrome. 10. Schinzel-Giedion syndrome. 11. Schwannomatosis. 12. Von Hippel-Lindau syndrome. Section II: Tumor Syndromes Affecting the Digestive System. 13. Alagille syndrome. 14. Constitutional mismatch repair deficiency syndrome. 15. Cronkhite-Canada syndrome. 16. Familial adenomatous polyposis. 17. Familial gastrointestinal stromal tumor. 18. Hereditary diffuse gastric cancer. 19. Juvenile polyposis syndrome. 20. Lynch syndrome. 21. MUTYH-associated polyposis. 22. Peutz-Jeghers syndrome. 23. Serrated polyposis syndrome. 24. Tylosis with esophageal cancer. Section III: Tumor Syndromes Affecting the Urogenitory System. 25. Bardet-Biedl synndrome. 26. Birt-Hogg-Dube syndrome. 27. Bohring-Opitz syndrome. 28. Familial testicular germ cell tumor. 29. Familial Wilms tumor and related syndromes. 30. Hereditary breast cancer and ovarian cancer. 31. Hereditary leiomyomatosis and renal cell cancer. 32. Hereditary papillary renal cell cancer. 33. Hereditary prostate cancer. 34. Microphthalmia-associated transcription family translocation renal cell cancer. 35. Mulibrey nanism. Section IV: Tumor Syndromes Affecting the Skin, Soft Tissue, and Bone. 36. Brooke-Spiegler syndrome. 37. Currarino syndrome. 38. Cutaneous malignant melanoma. 39. Familial atypical multiple mole melanoma syndrome. 40. Familial chordoma. 41. Hereditary multiple osteochondromas. 42. Karatitis-Ichthyosis-Deafness syndrome. 43. Li-Fraumeni syndrome. 44. McCune-Albright syndrome. 45. Milroy disease. 46. Mosaic variegated aneuploidy syndrome. 47. Roberts syndrome. 48. Rothmund-Thompson syndrome. 49. Werner syndrome. 50. Xeroderma pigmentosum. Section V: Tumor Syndromes Affecting the Endocrine System. 51. Carney complex. 52. Congenital adrenal hyperplasia. 53. Familial hyperparathyroidism. 54. Familial isolated pituitary adenoma. 55. Familial non-medullary thyroid carcinoma. 56. Familial pancreatic cancer. 57. Hereditary pancreatitis. 58. Hereditary pheochromocytoma and paraganglioma syndrome. 59. Mahvash disease. 59. Multiple endocrine neoplasia. 60. Pendred syndrome. Section VI: Tumor Syndromes Affecting the Hematopoietic and Lymphoreticular Systems. 62. Ataxia-telangiectasia syndrome. 63. Autoimmune lymphoproliferative syndrome. 64. Bloom syndrome. 65. Chediak-Higashi syndrome. 66. Congenital amegakaryocytic thrombocytopenia. 67. Diamond-Blackfan anemia. 68. Down syndrome. 69. Dyskeratosis congenita. 70. Familial acute myeloid leukemia. 71. Familial monosomy 7 syndrome. 72. Familial multiple myeloma. 73. Fanconi anemia. 74. GATA2 Deficiency. 75. LPD Associated with Epstein-Barr virus infection. 76. Nijmegen breakage syndrome. 77. Severe congenital neutropenia. 78. Shwachman-Diamond syndrome. 79. Sjoegren syndrome. 80. SRP72-Associated bone marrow failure syndrome. 81. Thrombocytopenia-absent radius. 82. Waldenstroem macroglobulinemia. Section VII: Overgrowth Syndromes, PTENopathies, and RASopathies. 84. Bannayan-Riley-Ruvalcaba syndrome. 85. Basal cell nevus syndrome. 86. Beckwith-Wiedemann syndrome. 87. CBL Syndrome. 88. CLOVES Syndrome. 89. Costello syndrome. 90. Cowden syndrome. 91. Klippel-Trenaunay syndrome. 92. Neurofibromatosis typese 1 and 2. 93. Noonan syndrome. 94. Perlman syndrome. 95. Proteus syndrome. 96. Schimmelpennning-Feuerstein-Mims syndrome. 97. Simpson-Golabi-Behmel syndrome. 98. Sotos syndrome. 99. Tuberous sclerosis complex. 100. Weaver syndrome.

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• Biologia Celular (citologia)
• Oncologia
• Biologia molecular

Polyostotic Fibrous Dysplasia;Papillary Thyroid Carcinoma;Cancer Biology;GATA1 Mutation;Oncology;Juvenile Chronic Myelogenous Leukemia;Genetics of Cancer;Desmoplastic Small Round Cell Tumor;Treatments for Cancer;Clear Cell Renal Cell Cancer;unique syndromic features;PTPN11 Mutation;tumor syndromes;genetic mutations;Malignant Peripheral Nerve Sheath Tumors;Allogeneic Hematopoietic Stem Cell Transplantation;Multiplex Ligation Dependent Probe Amplification;Increased Tumor Risk;SMAD4 Gene;PTEN Mutation;CDKN2A Mutation;KRAS Mutation;ASXL1 Mutation;TP53 Mutation;PTEN Gene;SMAD4 Mutation;DNA MMR Gene;Whim Syndrome;Proteus Syndrome;PPK;Palmoplantar Keratoderma;Persistent Fetal Vasculature