Hereditäre gastrointestinale Neoplasien

Zusammenfassung

Hereditäre Neoplasien sind für etwa 5 % der gastrointestinalen Tumorerkrankungen verantwortlich. Die Identifizierung ursächlicher Genmutationen eröffnet eine neue Dimension in der Prädiktion und Prävention dieser Tumorerkrankungen. In dieser Übersichtsarbeit werden die aktuellen Erkenntnisse zu Epidemiologie, klinischem Erscheinungsbild, Pathologie und molekulargenetischem Hintergrund sowie Diagnostik und Therapie der familiären adenomatösen Polyposis (FAP), des hereditären nichtpolypösen Kolonkarzinoms (HNPCC), des hereditären diffusen Magenkarzinoms (HDGC) und des familiären Pankreaskarzinoms (FPC) dargestellt und diskutiert.

Abstract

Hereditary gastrointestinal tumors account for approximately 5 % of the overall gastrointestinal cancer burden. The identification of underlying gene mutations opened up a new dimension regarding prediction and prevention of these hereditary tumors. In this review the current knowledge of epidemiology, clinical findings, pathology and genetic background, surveillance and treatment options of familial adenomatous polyposis (FAP), hereditary non-polyposis colorectal cancer syndrome (HNPCC), hereditary diffuse gastric cancer (HDGC) and familial pancreatic cancer (FPC) are described and discussed.

Schlüsselwörter

Hereditäre gastrointestinale Neoplasien - FAP - HNPCC - familiäres Magenkarzinom - familiäres Pankreaskarzinom

Key words

Hereditary gastrointestinal neoplasias - familial adenomatous polyposis (FAP) - hereditary non-polyposis colorectal cancer syndrome (HNPCC) - hereditary diffuse gastric cancer (HDGC) - familial pancreatic cancer (FPC)

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