title: Duodenal carcinoma in MUTYH-associated polyposis.
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.
authors.affiliation: Centre for Human and Clinical Genetics, LUMC, Leiden, the Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Nielsen
authors.forename: J W
authors.initials: JW
authors.lastname: Poley
authors.forename: S
authors.initials: S
authors.lastname: Verhoef
authors.forename: M
authors.initials: M
authors.lastname: van Puijenbroek
authors.forename: M M
authors.initials: MM
authors.lastname: Weiss
authors.forename: G T
authors.initials: GT
authors.lastname: Burger
authors.forename: C J
authors.initials: CJ
authors.lastname: Dommering
authors.forename: H F A
authors.initials: HF
authors.lastname: Vasen
authors.forename: E J
authors.initials: EJ
authors.lastname: Kuipers
authors.forename: A
authors.initials: A
authors.lastname: Wagner
authors.forename: H
authors.initials: H
authors.lastname: Morreau
authors.forename: F J
authors.initials: FJ
authors.lastname: Hes
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics / Q000473:pathology*; D000368:Aged; D045647:DNA Glycosylases / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D004273:DNA, Neoplasm / Q000235:genetics; D004379:Duodenal Neoplasms / Q000235:genetics / Q000473:pathology*; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged
chemical_list: D004273:DNA, Neoplasm; D045647:DNA Glycosylases; C061738:mutY adenine glycosylase