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Prophylaktische Chirurgie bei hereditären gastrointestinalen Dispositionssyndromen

Prophylactic surgery for hereditary gastrointestinal predisposition syndromes

  • Leitthema
  • Published:
coloproctology Aims and scope

Zusammenfassung

Hereditäre gastrointestinale Tumordispositionssyndrome (HGTS) können ein hohes Krebsrisiko mit sich bringen und stellen für Patienten und behandelnde Ärzte eine große Herausforderung dar. Bei einigen erblichen Krebssyndromen mit hoher Penetranz aber ohne Karzinomnachweis ist eine risikomindernde Operation die wirksamste Strategie zur Krebsvorbeugung, muss jedoch sehr sorgfältig bedacht sein, da sie irreversibel ist und sowohl positive als auch negative Auswirkungen auf die Lebensqualität haben kann. Der klinische, molekulare und technische Fortschritt in der Diagnostik und Interpretation erlaubt risikoangepasste, teils weniger invasive chirurgische und nichtchirurgische prophylaktische Interventionen und erweitert die Vielfalt der individualisierten Therapiemöglichkeiten. Dagegen kann bei bereits drohendem oder manifestem Karzinom eine radikalere onkologische Resektion mit Entfernung des gesamten Organs das Auftreten von metachronen Karzinomen vermieden werden. Die bekanntesten gastrointestinalen Manifestationen vererbter Krebssyndrome wie das Lynch-Syndrom und die familiäre adenomatöse Polyposis (FAP) gehen mit einem hohen Risiko für das kolorektale Karzinom (KRK) einher. Die familiäre adenomatöse Polyposis (APC- oder MYH-Mutation) und das hereditäre diffuse Magenkarzinom (CDH1-Mutation) und sind anerkannte Indikationen für eine prophylaktische Operation. In diesen Fällen sollte im Vorfeld immer eine individuelle Risiko-Nutzen-Abwägung erfolgen. Der Patient muss umfassend aufgeklärt werden, auch hinsichtlich eventueller Einschränkungen der Lebensqualität nach dem Eingriff. Die Diagnose und Behandlung erblicher Krebssyndrome erfordern ein multidisziplinäres Team und sollten an einem entsprechenden Zentrum durchgeführt werden.

Abstract

Hereditary gastrointestinal tumor predisposition syndromes can carry a high risk of cancer and pose a major challenge for patients and treating physicians. For some hereditary cancer syndromes with high penetrance but no evidence of a carcinoma, risk-reducing surgery is the most effective strategy for cancer prevention but must be considered very carefully as it is irreversible and can have both positive and negative effects on the quality of life. The clinical, molecular and technical progress in the diagnostics and interpretation enables risk-adapted, sometimes less invasive surgical and nonsurgical prophylactic interventions and expands the variety of individualized treatment options. In contrast, radical oncological resection with removal of the complete organ can become necessary for impending or manifest carcinoma in order to prevent the occurrence of metachronous carcinomas. The best known gastrointestinal manifestations of hereditary cancer syndromes, such as Lynch syndrome and familial adenomatous polyposis (FAP), are associated with a high risk of colorectal cancer. Familial adenomatous polyposis (APC or MYH mutation) and hereditary diffuse gastric carcinoma (CDH1 mutation) are recognized indications for prophylactic surgery. In these cases an individual risk-benefit assessment should always be caried out in advance. The patient must be comprehensively informed also with respect to possible restrictions in the quality of life following surgery. The diagnosis and treatment of hereditary cancer syndromes requires a multidisciplinary team and should be performed at an appropriate center.

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  1. Klinik für Allgemein‑, Viszeral- und Transplantationschirurgie, Campus Großhadern, Klinikum der Ludwig-Maximilians-Universität München, Marchioninistr. 15, 81377, München, Deutschland

    Petra Zimmermann, Jens Werner &  Florian Kühn FACS, FEBS

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Zimmermann, P., Werner, J. & Kühn, F. Prophylaktische Chirurgie bei hereditären gastrointestinalen Dispositionssyndromen. coloproctology 46, 96–103 (2024). https://doi.org/10.1007/s00053-024-00776-y

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