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Case Reports
. 2006 Nov;59(11):1212-5.
doi: 10.1136/jcp.2005.031757. Epub 2006 Aug 30.

Duodenal carcinoma in MUTYH-associated polyposis

M Nielsen  1 , J W Poley, S Verhoef, M van Puijenbroek, M M Weiss, G T Burger, C J Dommering, H F A Vasen, E J Kuipers, A Wagner, H Morreau, F J Hes
Affiliations
Case Reports

Duodenal carcinoma in MUTYH-associated polyposis

M Nielsen et al. J Clin Pathol. 2006 Nov.

Abstract

Bi-allelic germline mutations in the MUTYH gene give rise to multiple adenomas and an increased incidence of colorectal cancer. In addition, duodenal adenomas and other extra-colonic manifestations have been described in MUTYH-associated polyposis (MAP) patients. We describe two patients with bi-allelic MUTYH gene mutations with duodenal carcinoma. The tumour in Patient A was detected during evaluation of non-specific abdominal complaints. Patient B was already diagnosed with tens of adenomas and a colon carcinoma, when a duodenal neoplasm was detected. The identification of somatic G>T mutations in codon 12 of the K-RAS2 gene provides evidence that the duodenal lesions were induced by MUTYH deficiency. Studies in larger series of MAP patients are needed to investigate the risk of upper-gastro-intestinal malignancies and to determine further guidelines for endoscopical surveillance.

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Conflict of interest statement

Competing interests: None.

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