Zusammenfassung
Hintergrund
Tumorerkrankungen stellen die zweithäufigste Todesursache in der industrialisierten Welt dar. Das zunehmende Verständnis der molekularen Ätiopathogenese von Tumoren und des Einflusses auf die klinische Heterogenität und das Therapieansprechen hat zu einer Präzisierung onkologischer Strategien geführt. Hereditäre Dispositionssyndrome werden aufgrund fehlender Awareness hierzulande nur zu einem kleinen Anteil durch klinische und konsekutive molekulargenetische Testung identifiziert. In Anbetracht des weitreichenden Benefits für Betroffene und deren Familien wären systematische molekulargenetische Untersuchungen bei allen gastrointestinalen Tumoren sinnvoll.
Methode
Eine Recherche und Auswertung aktueller Literatur wurden durchgeführt.
Ergebnisse und Schlussfolgerungen
Durch Identifikation von Mutationsträgern eröffnen sich zahlreiche Optionen für Präventionsstrategien. Diese reichen von einer Änderung der Lifestyle-Faktoren über eine medikamentöse Prävention bis hin zu risikoreduzierenden prophylaktischen Operationen. Allerdings muss hierbei das syndrombezogene Risiko des Auftretens der Tumorerkrankung (Penetranz) unter Berücksichtigung des Gens oder evtl. des genauen Genlokus und des Geschlechts (Gender) sowie des Alters mit der Morbidität jeder Maßnahme genau abgewogen werden. Es ist die Rolle der Behandler unterschiedlicher Disziplinen, über die Möglichkeiten und Grenzen präventiver Maßnahmen so zu beraten, dass Betroffene eine informierte Entscheidung treffen können. In dieser Übersichtsarbeit werden der aktuelle Stand präventiver Optionen in der Behandlung hereditärer Tumorerkrankungen des Gastrointestinaltrakts dargestellt und Konsequenzen für das klinische Management diskutiert.
Abstract
Background
Cancer is the second most frequent cause of mortality in the western world. The increasing understanding of the molecular etiology of tumors and the influence on clinical heterogeneity and response to therapy, have led to more precise oncological strategies. Due to a lack of awareness, only a small proportion of hereditary disposition syndromes are identified based on the clinical features and subsequent molecular testing. Considering the far-reaching benefits for affected patients and their families a strategy of systematic testing, as proposed in several international guidelines, appears to be a sensible approach for all gastrointestinal tumors.
Method
Research and analysis of the current literature.
Results and Conclusions
The identification of mutation carriers opens up numerous options for preventive strategies. These range from a modification of life style factors to pharmaceutical prevention or risk-reducing prophylactic surgery; however, it is essential to weigh up the syndrome-specific risk of tumor formation (penetrance) in the light of the corresponding gene or even gene-specific locus and gender in addition to age, against the morbidity of any measures taken. It is the role of the treating physicians from the various disciplines involved to inform patients about the options and limitations of preventive measures as a basis for informed decision making. In this overview, the currently available preventive options in the management of hereditary tumor syndromes of the gastrointestinal tract are presented and the resulting consequences for clinical management are discussed.
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J. Dörner, P.C. Ambe und G. Möslein geben an, dass kein Interessenkonflikt besteht.
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Dörner, J., Ambe, P.C. & Möslein, G. Chirurgische Prävention hereditärer gastrointestinaler Tumordispositionen. Onkologe 23, 446–452 (2017). https://doi.org/10.1007/s00761-017-0222-x
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DOI: https://doi.org/10.1007/s00761-017-0222-x
Schlüsselwörter
- Familiäre adenomatöse Polyposis
- Polyposis-Syndrom
- Lynch-Syndrom
- Hereditäres diffuses Magenkarzinom
- Prophylaktische Chirurgie