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Evidence for accelerated colorectal adenoma-carcinoma progression in MUTYH-associated polyposis?

Nieuwenhuis, M. H., Vogt, S., Jones, N., Nielsen, M., Hes, F. J., Sampson, Julian Roy, Aretz, S. and Vasen, H. F. A. 2011. Evidence for accelerated colorectal adenoma-carcinoma progression in MUTYH-associated polyposis? Gut 61 (5) , pp. 734-738. 10.1136/gut.2010.229104

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Abstract

Background and aim MUTYH-associated polyposis (MAP) is an autosomal recessive inherited disorder characterised by the development of polyposis in the upper and lower gastrointestinal tract and a high risk of colorectal cancer (CRC). We evaluated the natural history of the disease and the outcome of colorectal surveillance and management. Methods A large Western European dataset of biallelic MUTYH mutation carriers comprising 254 patients was used. Detailed information was collected on polyp and cancer development in the colorectum, and the outcome of surveillance and surgery. Survival methods were used to calculate the risk of CRC development. Results The mean follow-up was 9.8 years. Colorectal polyposis was diagnosed at a mean age of 44.8 years (range: 12–77 years). Most patients had <100 colorectal adenomas at diagnosis. CRC was diagnosed in 147 (58%) of the 254 patients (mean age at diagnosis: 48.5, range: 21–77 years). The cumulative lifetime risk of CRC was 63% at age 60 years. There was no correlation between the number of adenomas and the presence of CRC. The cumulative risk of CRC in patients presenting with polyps was 9% after 5 years of follow-up. Patients presenting with CRC had 11% risk of developing a metachronous CRC at 5 years after surgery. Thirty-seven per cent of patients with MAP with CRC who underwent partial colonic resection needed secondary surgery shortly afterwards. Conclusions The high risk of developing CRC under surveillance in patients with MAP may suggest an accelerated carcinogenesis. Surveillance of these patients should therefore include colonoscopy at short intervals, for example, at 1–2-year intervals starting from the age of 18 to 20 years. If surgery for CRC is warranted, a (sub)total colectomy is recommended.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: BMJ Publishing Group Ltd
ISSN: 0017-5749
Last Modified: 04 Jun 2017 04:40
URI: http://orca-mwe.cf.ac.uk/id/eprint/42566

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