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Das hereditäre diffuse Magenkarzinom

Hereditary diffuse gastric cancer

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Zusammenfassung

Durch die zunehmende Erforschung familiärer Häufungen von Tumorerkrankungen, werden immer weitere Gene identifiziert, deren Mutationen diese Häufungen erklären. Mutationen im CDH1- oder CTNNA1-Gen werden als ursächlich für das Auftreten des hereditären diffusen Magenkarzinoms angesehen. Die Betroffenen zeigen eine Magenkarzinominzidenz von ungefähr 40 % bis zum 80. Lebensjahr. Gleichzeitig zeigen weibliche Betroffene eine Inzidenz von 55 % für das Auftreten des lobulären Mammakarzinoms. 2020 wurden aktualisierte internationale Leitlinien publiziert, die den klinischen Umgang mit diesem Patientengut beschreiben. Bei Erfüllung spezifischer Testkriterien sollte eine genetische Testung der zwei aufgeführten Gene erfolgen. Bei dem Nachweis einer pathologischen Mutation sowie dem familiären Auftreten diffuser Magenkarzinome kann eine prophylaktische totale Gastrektomie mit D1-Lymphadenektomie empfohlen werden. Alternativ oder bei fehlendem Nachweis pathologischer Mutationen sollten jährliche Gastroskopien mit gezielten sowie zufälligen Biopsien erfolgen. Das Auftreten des lobulären Mammakarzinoms sollte ab dem 30. Lebensjahr mittels jährlicher magnetresonanztomographischer Untersuchungen gemonitort werden. Eine risikoreduzierende beidseitige Mastektomie kann erwogen werden.

Abstract

Due to the increasing research into familial clustering of cancer entities, more and more genes are being identified in which mutations explain this clustering. Mutations in the cadherin 1 (CDH1) and catenin alpha 1 (CTNNA1) genes are considered to be causative for the occurrence of hereditary diffuse gastric cancer. Those affected show an incidence of gastric cancer of around 40% up to the age of 80 years and affected women show an incidence of 55% for the occurrence of lobular breast cancer. In 2020 updated international guidelines were published for the clinical management of patients with hereditary diffuse gastric cancer. When the specific test criteria are fulfilled, patients should undergo genetic testing for mutations in the CDH1 and CTNNA1 genes. In cases of the familial occurrence of diffuse gastric cancer and detection of a pathological mutation, a prophylactic total gastrectomy with D1 lymphadenectomy is recommended. Alternatively, or when pathological mutations are not detected, a gastroscopy should be performed annually with targeted and random biopsies. The occurrence of lobular breast cancer should be monitored annually by magnetic resonance imaging (MRI) from the age of 30 years onwards. A bilateral mastectomy for risk reduction should be discussed in a multidisciplinary setting.

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  1. Klinik für Allgemein‑, Viszeral‑, Tumor- und Transplantationschirurgie, Uniklinik Köln, Kerpener Str. 62, 50937, Köln, Deutschland

    Karl Knipper, Hans F. Fuchs, Hakan Alakus, Christiane J. Bruns &  Thomas Schmidt

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K. Knipper, H. Alakus, C.J. Bruns und T. Schmidt geben an, dass kein Interessenkonflikt besteht. H.F. Fuchs ist Berater bei Stryker und Medtronic sowie erhält Förderungen von Intuitive Surgical.

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Knipper, K., Fuchs, H.F., Alakus, H. et al. Das hereditäre diffuse Magenkarzinom. Chirurgie 94, 400–405 (2023). https://doi.org/10.1007/s00104-023-01806-z

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