Zusammenfassung
Das HNPCC-Syndrom (Hereditary NonPolyposis Colorectal Cancer syndrome) oder auch Lynch-Syndrom stellt mit einem Anteil von 2 - 13 % aller kolorektalen Karzinome die wahrscheinlich häufigste hereditäre Karzinomerkrankung dar. Die Diagnose eines HNPCC-Syndroms basiert bei fehlenden klinischen Hinweisen auf der Erhebung der Familienanamnese (Amsterdamer/Bethesda-Kriterien) und wird durch den Nachweis der Keimbahnmutation in einem der verantwortlichen DNA-Mismatch-Repair (MMR)-Genen bestätigt. Ziel dieser Arbeit ist es, anhand der Patienten mit HNPCC-assoziierten Karzinomen der chirurgischen und gynäkologischen Abteilung der Universitätsklinik Göttingen von 1995 - 2000 die international veröffentlichen Anamnesekriterien und die molekulardiagnostischen Methoden zu hinterfragen und etwaige neue Erkenntnisse zur Diskussion zu stellen.
Abstract
The hereditary non-polyposis colorectal cancer syndrome is the most common form of hereditary colorectal cancers, and accounts for 2 - 13 % of the total colorectal cancer burden. Since there are no specific clinical features, the diagnosis is based on the family history (Amsterdam or Bethesda criteria) and confirmed by the detection of a germ-line mutation in one of the responsible DNA mismatch repair genes. The aim of the study was to questionnaire the international criteria for the diagnosis of HNPCC with the data from our and the department of gynaecology of the university Göttingen from 1995 - 2000 and to discuss new findings with respect to clinical implication.
Schlüsselwörter
HNPPC - Mikrosatellitenanalyse - Sequenzanalyse - Amsterdamer Kriterien - Bethesda-Kriterien - Immunhistochemie
Key words
HNPCC - microsatellite analysis - sequence analysis - Amsterdam criteria - Bethesda criteria - immunohistochemistry
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PD Dr. A. Müller
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