Desmoid tumours in familial adenomatous polyposis

A. K. Gurbuz, F. M. Giardiello, G. M. Petersen, A. J. Krush, G. J.A. Offerhaus, S. V. Booker, M. C. Kerr, S. R. Hamilton

Research output: Contribution to journalArticle

280 Scopus citations

Abstract

Desmoids are rare, benign fibromatous lesions, which can arise in patients with familial adenomatous polyposis (FAP), a disorder caused by germline adenomatous polyposis coli (APC) gene mutation. This study investigated the risk of desmoids in FAP, the relation between specific APC gene mutations and desmoid formation, and the clinical characteristics of FAP patients with desmoids. Eighty three of 825 FAP patients (10%) from 49 of 161 kindreds (30%) had desmoids. The absolute risk of desmoids in FAP patients was 2.56/1000 person years; comparative risk was 852 times the general population. APC gene mutations were similar in families with and without desmoids. The female/male ratio was 1.4 (p=NS). Previous abdominal surgery was noted in 68% of patients with abdominal desmoids (55% developed within five years postoperatively). Desmoid risk in FAP family members of a desmoid patient was 25% in first degree relatives v 8% in third degree relatives. Desmoids are a comparatively common complication of FAP associated with surgical trauma and familial aggregation. Desmoid development was not linked to specific APC gene mutations and was not found predominantly in women. Studies of chemopreventive therapy, given within five years after abdominal surgery, should be considered in FAP patients with a family history of desmoid disease.

Original languageEnglish (US)
Pages (from-to)377-381
Number of pages5
JournalGut
Volume35
Issue number3
DOIs
StatePublished - Mar 1994

ASJC Scopus subject areas

  • Gastroenterology

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    Gurbuz, A. K., Giardiello, F. M., Petersen, G. M., Krush, A. J., Offerhaus, G. J. A., Booker, S. V., Kerr, M. C., & Hamilton, S. R. (1994). Desmoid tumours in familial adenomatous polyposis. Gut, 35(3), 377-381. https://doi.org/10.1136/gut.35.3.377