Small bowel carcinoma in hereditary nonpolyposis colorectal cancer.

Abstract

A 53-yr-old man, a member of a hereditary nonpolyposis colorectal cancer (HNPCC) family, with previous colonoscopic polypectomies, presented for persisting vomiting and marked signs of dehydration. Previous radiological and endoscopic examinations of the upper digestive tract were negative, with the exception of the presence of a duodenal adenomatous polyp. Enteroclysis led to a diagnosis of obstruction at the Treitz angle due to a moderately differentiated adenocarcinoma. Microsatellite instability was demonstrated in the DNA extracted from the tumor. The patient was the carrier of a mutation in the intron 13 of the hMLH1 gene, one of the four mismatch repair genes known to be responsible for HNPCC.