Zusammenfassung
Das molekulargenetische Verständnis gastroenteropankreatischer neuroendokriner Tumoren (GEP-NET) hat sich in den letzten Jahren durch genomweite Strategien und Analyse von Kandidatengenen wesentlich erweitert. Für die sporadischen und hereditären NET von Pankreas und Duodenum konnte v. a. eine zentrale Rolle von inaktivierenden MEN1-Gen-Mutationen nachgewiesen werden. Die Identifizierung von hereditären NET im Rahmen der multiplen endokrinen NeoplasieTyp 1 (MEN1) ist zu einer wichtigen Aufgabe der klinischen Gendiagnostik geworden—mit signifikantem Einfluss auf das klinische Management betroffener Patienten und ihrer Familien. Klinische Indikationen zur MEN1-Mutationsdiagnostik bei Patienten mit GEP-NET wie auch im Rahmen der Familienuntersuchung wurde kürzlich erarbeitet.
Abstract
Molecular understanding of gastroenteropancreatic neuroendocrine tumors (GEP-NET) has increased considerably during recent years, mostly owing to genome-wide scans and candidate gene approaches. For sporadic and hereditary NET of the duodenum and pancreas, a critical role has been assigned to inactivating mutations of the MEN1 tumor suppressor gene. The identification of hereditary NET associated with the multiple endocrine neoplasia type 1 syndrome has become an important goal of genetic diagnostics, with considerable impact on the clinical management of affected patients and their families. Clinical indications for MEN1 mutation screening in patients with GEP-NET as well as in the context of genetic family screening have recently been proposed.
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Karges, W. Molekulare und klinische Genetik neuroendokriner Tumoren des Gastrointestinaltrakts. Onkologe 10, 580–587 (2004). https://doi.org/10.1007/s00761-004-0719-y
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DOI: https://doi.org/10.1007/s00761-004-0719-y