Duodenal carcinoma in MUTYH-associated polyposis.
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.
Nielsen
M
M
Centre for Human and Clinical Genetics, LUMC, Leiden, the Netherlands.
Poley
J W
JW
Verhoef
S
S
van Puijenbroek
M
M
Weiss
M M
MM
Burger
G T
GT
Dommering
C J
CJ
Vasen
H F A
HF
Kuipers
E J
EJ
Wagner
A
A
Morreau
H
H
Hes
F J
FJ
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
D004273:DNA, Neoplasm; D045647:DNA Glycosylases; C061738:mutY adenine glycosylase