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Duodenal carcinoma in MUTYH-associated polyposis
  1. M Nielsen1,*,
  2. J W Poley2,*,
  3. S Verhoef3,
  4. M van Puijenbroek4,
  5. M M Weiss1,
  6. G T Burger5,
  7. C J Dommering3,
  8. H F A Vasen6,
  9. E J Kuipers2,
  10. A Wagner7,
  11. H Morreau4,
  12. F J Hes1
  1. 1Centre for Human and Clinical Genetics, LUMC, Leiden, the Netherlands
  2. 2Department of Gastroenterology and Hepatology, Erasmus MC, Rotterdam, the Netherlands
  3. 3Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, the Netherlands
  4. 4Department of Pathology, LUMC, Leiden, the Netherlands
  5. 5Department of Pathology, SAZINON Foundation Bethesda Hospital, Hoogeveen, the Netherlands
  6. 6The Dutch Polyposis Register, The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, the Netherlands
  7. 7Department of Clinical Genetics, Erasmus MC
  1. Correspondence to:
    F J Hes
    Centre for Human and Clinical Genetics, LUMC, PO Box 9600, 2300 RC Leiden, the Netherlands;F.J.Hes{at}


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

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