Prophylaktische Chirurgie bei hereditären gastrointestinalen Dispositionssyndromen

Hereditary gastrointestinal tumor predisposition syndromes can carry a high risk of cancer and pose a major challenge for patients and treating physicians. For some hereditary cancer syndromes with high penetrance but no evidence of a carcinoma, risk-reducing surgery is the most effective strategy for cancer prevention but must be considered very carefully as it is irreversible and can have both positive and negative effects on the quality of life. The clinical, molecular and technical progress in the diagnostics and interpretation enables risk-adapted, sometimes less invasive surgical and nonsurgical prophylactic interventions and expands the variety of individualized treatment options. In contrast, radical oncological resection with removal of the complete organ can become necessary for impending or manifest carcinoma in order to prevent the occurrence of metachronous carcinomas. The best known gastrointestinal manifestations of hereditary cancer syndromes, such as Lynch syndrome and familial adenomatous polyposis (FAP), are associated with a high risk of colorectal cancer. Familial adenomatous polyposis (APC or MYH mutation) and hereditary diffuse gastric carcinoma (CDH1 mutation) are recognized indications for prophylactic surgery. In these cases an individual risk-benefit assessment should always be caried out in advance. The patient must be comprehensively informed also with respect to possible restrictions in the quality of life following surgery. The diagnosis and treatment of hereditary cancer syndromes requires a multidisciplinary team and should be performed at an appropriate center.