SHORT REPORT

Duodenal carcinoma in MUTYH-associated polyposis

M Nielsen^1,*, J W Poley^2,*, 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 and F J Hes¹

¹ Centre for Human and Clinical Genetics, LUMC, Leiden, the Netherlands
² Department of Gastroenterology and Hepatology, Erasmus MC, Rotterdam, the Netherlands
³ Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, the Netherlands
⁴ Department of Pathology, LUMC, Leiden, the Netherlands
⁵ Department of Pathology, SAZINON Foundation Bethesda Hospital, Hoogeveen, the Netherlands
⁶ The Dutch Polyposis Register, The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, the Netherlands
⁷ Department of Clinical Genetics, Erasmus MC

Correspondence to:
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

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.

Abbreviations: AFAP, attenuated familial adenomatous polyposis; CRC, colorectal cancer; FAP, familial adenomatous polyposis; MAP, MUTYH-associated polyposis; PCR, polymerase chain reaction

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