Zusammenfassung
Erbliche Tumoren im Gastrointestinaltrakt, die häufig im Rahmen autosomal-dominant vererbter Tumorsyndrome auftreten, machen nur einen relativ kleinen Prozentsatz aller gastrointestinalen Tumoren aus. Aufgrund der Möglichkeiten der modernen molekularen Diagnostik ist jedoch häufig eine Identifizierung der pathogenen Mutation in den entsprechenden Familien mit der Option der prädiktiven Diagnostik und der Unterscheidung zwischen Mutationsträgern und Nichtmutationsträgern gegeben. Somit besteht die Chance der Früherkennung von Tumoren innerhalb gezielter Vorsorgeprogramme und der Prognoseverbesserung durch frühzeitige Intervention bis hin zur prophylaktischen Resektion.
Es erfolgt eine Beschreibung der klinischen Manifestation, der zugrunde liegenden molekularen Basis, der entsprechenden Vorsorgeprogramme und der therapeutischen Konsequenzen bei familiärem Magenkarzinom, familiärer adenomatöser Polyposis coli (FAP), hereditärem nicht polyposisassoziiertem kolorektalem Karzinom (HNPCC), Peutz-Jeghers-Syndrom (PJS), juveniler Polyposis (JP), hyperplastischer Polyposis (HP) und familiärem Pankreaskarzinom.
Abstract
Familial tumors of the gastrointestinal tract, which often appear as autosomal-dominantly inherited tumor syndromes, account for only a small proportion of all gastrointestinal tumors. With the opportunities of modern molecular diagnostics, identifying the pathogenic mutation in families is often possible, with the option of predictive molecular testing and differentiation between mutation carriers and noncarriers. Thus a good chance exists for detection of early tumor stages by individually tailored surveillance programs and for improving prognosis by early intervention and prophylactic resection. Clinical manifestation, molecular basis at the root, individual surveillance programs, and their consequences for the treatment of familial gastric cancer, familial adenomatous polyposis coli, hereditary nonpolyposis colorectal cancer, Peutz-Jeghers syndrome, juvenile polyposis, hyperplastic polyposis, and familial pancreatic cancer are presented.
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Pistorius, S., Schackert, H. & Saeger, HD. Erbliche Tumoren im Gastrointestinaltrakt. Chirurg 78, 561–572 (2007). https://doi.org/10.1007/s00104-007-1343-3
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DOI: https://doi.org/10.1007/s00104-007-1343-3