Small bowel carcinoma revealing HNPCC syndrome

Gastroenterol Clin Biol. 2010 Apr-May;34(4-5):325-8. doi: 10.1016/j.gcb.2010.04.007.

Abstract

Small bowel adenocarcinoma is a rare condition with poor prognosis. Like colorectal cancer, small bowel carcinoma may be a part of genetic syndromes with carcinogenetic pathways different from sporadic forms. We report a case of 41-year-old man with small bowel carcinoma revealing hereditary non polyposis colorectal cancer (HNPCC) syndrome. This report supports the systematic study of the MSI status in every patient with a small bowel carcinoma below 60-year-old of age in order to screen for HNPCC syndrome even in the absence of a family history of related cancers.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adenocarcinoma / pathology*
  • Adenocarcinoma / therapy
  • Adult
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*
  • Duodenal Neoplasms / pathology*
  • Duodenal Neoplasms / therapy
  • Exons
  • Humans
  • Male
  • MutL Protein Homolog 1
  • Mutation
  • Nuclear Proteins / genetics

Substances

  • Adaptor Proteins, Signal Transducing
  • MLH1 protein, human
  • Nuclear Proteins
  • MutL Protein Homolog 1