The hamartomatous polyposis syndromes: a clinical and molecular review.

摘要: Inherited forms of gastrointestinal cancer have been a major focus study and advancement over the past decade. Familial adenomatous polyposis hereditary nonpolyposis colon are two most common heritable syndromes. syndromes characterized by dominant type polyp (whether or hamartomatous) present polyp's location within tract. The hamartomatous an overgrowth cells native to area in which they normally occur. They represent small but appreciable number inherited predisposition syndromes; it is now known that many these carry substantial risk for developing as well other pancreatic cancers. Patients afflicted with also at significant extraintestinal malignancies. Seven described: familial juvenile syndrome, Cowden's Bannayan-Ruvalcaba-Riley Peutz-Jeghers basal cell nevus neurofibromatosis 1, multiple endocrine neoplasia syndrome 2B. Hereditary mixed variant both polyps. occur approximately 1/10th frequency account <1% colorectal Northern America. While diagnosis primarily clinical, genetic testing available all six However, there spontaneous mutations seen each management patients necessitates coordinated multidisciplinary approach. purpose this review characterize clinical pathological features targets surveillance. molecular alterations responsible will be discussed.