Duodenal carcinoma in MUTYH-associated polyposis.
J Clin Pathol
; 59(11): 1212-5, 2006 Nov.
Article
in En
| MEDLINE
| ID: mdl-16943222
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Germ-Line Mutation
/
Adenomatous Polyposis Coli
/
DNA Glycosylases
/
Duodenal Neoplasms
Type of study:
Guideline
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Aged
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
J Clin Pathol
Year:
2006
Document type:
Article
Affiliation country:
Netherlands