Aktuelle Diagnostik und Therapie von Desmoidtumoren bei Patienten mit familiärer adenomatöser Polyposis – aus chirurgischer Sicht

Zusammenfassung

Das Ziel der vorliegenden Übersicht besteht darin, basierend auf einer repräsentativen Auswahl relevanter Literaturverweise, den Paradigmenwechsel im chirurgischen Management von Desmoidtumoren (DT) in Koinzidenz mit familiärer adenomatöser Polyposis (FAP) darzustellen. Schwerpunkt liegt auf der Differenzialtherapie, die durch epidemiologische Daten sowie Aussagen zur Diagnostik und Nachsorge ergänzt wird. DT sind seltene benigne Weichteiltumoren, die nicht metastasieren, jedoch zu lokal infiltrativem Wachstum neigen. Im Gegensatz zur Normalbevölkerung treten DT bei Patienten mit FAP häufiger auf, zeigen ein anderes Verteilungsmuster und sind in besonderem Maße hinsichtlich Morbidität und Mortalität verantwortlich. Intraabdominale DT machen hierbei den größten Teil der Manifestationen aus und bereiten die meisten Probleme bei der Behandlung. Als Ursache werden genetische und hormonelle Faktoren sowie ein vorangegangenes chirurgisches Trauma diskutiert. Typische Symptome sind abdominale Schmerzen, Übelkeit und Erbrechen. DT können sich jedoch auch als „Akutes Abdomen“ präsentieren. Diagnostisch ist die Computertomografie richtungsweisend. Das Behandlungsspektrum umfasst verschiedene medikamentöse Ansätze, eine Tumorresektion sowie die Strahlentherapie. Aufgrund der geringen Häufigkeit der Erkrankung basieren Daten zur Diagnostik und Therapie auf Studien mit kleinen Fallzahlen oder Fallberichten. Die Verbesserung der Prognose der Erkrankung sowie die Entwicklung klarer Leitlinien sind daher auf die Durchführung internationaler multizentrischer Studien angewiesen. 

Abstract

Based on a representative selection of relevant references, the aim of this study was to reflect the change of the algorithm in the surgical management of desmoid tumours (DT) in cases of accompanying familial adenomatous polyposis (FAP). Main focus is concerned with the basics of differential treatment, including additional considerations on epidemiology, diagnosis, outcome and follow-up. DT are rare benign tumours that do not metastasise but tend to invade locally. In contrast to the general population, DT in patients with FAP are more common, show a different pattern of tumour sites and cause considerable morbidity and mortality. Most DT occur in the abdominal cavity and account for the majority of serious problems. Genetic disposition and hormonal factors as well as prior surgical trauma are considered causative for the development of DT. Characteristic symptoms are abdominal pain, nausea and vomiting but DT may also present as acute abdomen. CT scan determines localisation and extension of the tumour. Treatment includes various strategies of medication, surgical resection and radiation. Data concerning diagnostic and therapeutic procedures are based on studies with small case series or case reports only. Therefore data from international multicentre studies are necessary for improving the prognosis and developing reliable and stringent guidelines. 

Desmoidtumoren - familiäre adenomatöse Polyposis - chirurgisches Vorgehen - Differenzialtherapie

desmoid tumours - familial adenomatous polyposis - surgical approach - differential therapy

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