Duodenal carcinoma in MUTYH-associated polyposis
- M Nielsen1,*,
- J W Poley2,*,
- S Verhoef3,
- M van Puijenbroek4,
- M M Weiss1,
- G T Burger5,
- C J Dommering3,
- H F A Vasen6,
- E J Kuipers2,
- A Wagner7,
- H Morreau4,
- F J Hes1
- 1Centre for Human and Clinical Genetics, LUMC, Leiden, the Netherlands
- 2Department of Gastroenterology and Hepatology, Erasmus MC, Rotterdam, the Netherlands
- 3Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, the Netherlands
- 4Department of Pathology, LUMC, Leiden, the Netherlands
- 5Department of Pathology, SAZINON Foundation Bethesda Hospital, Hoogeveen, the Netherlands
- 6The Dutch Polyposis Register, The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, the Netherlands
- 7Department of Clinical Genetics, Erasmus MC
- Correspondence to:
F J Hes
Centre for Human and Clinical Genetics, LUMC, PO Box 9600, 2300 RC Leiden, the Netherlands;F.J.Hes{at}lumc.nl
- Accepted 24 August 2005
- Published Online First 30 August 2006
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.
- AFAP, attenuated familial adenomatous polyposis
- CRC, colorectal cancer
- FAP, familial adenomatous polyposis
- MAP, MUTYH-associated polyposis
- PCR, polymerase chain reaction
Footnotes
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↵* These authors contributed equally.
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Published Online First 30 August 2006
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This study was funded by the Dutch Digestive Diseases Foundation, grant MWO 0355 (http://jcp.bmjjournals.com/misc/ifora/licenceform.shtml).
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Competing interests: None.
