[A Case of Colon Cancer with Familial Adenomatous Polyposis Showing MSI-H and Deletion of MSH2/MSH6 Protein]

Gan To Kagaku Ryoho. 2015 Nov;42(12):2208-10.
[Article in Japanese]

Abstract

A 31-year-old woman with familial adenomatous polyposis (FAP) was diagnosed with colon cancer. Genetic testing showed a germ cell line mutation of APC (a frame-shift mutation). Moreover, deletion of MSH2/MSH6 protein and high microsatellite instability (MSI-H) was detected. Therefore, Lynch syndrome (LS) associated with FAP was suspected. Additional analysis showed no pathogenic mutation of MSH2 and no change in the number of copies or methylation in the promoter region. Therefore, this was not a case of LS caused by a genetic germ cell line mutation. The chromosome instability had been caused by a malfunction of APC, and it produced a structural change in a gene in the somatic cells. This case is very interesting.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adenomatous Polyposis Coli / complications
  • Adenomatous Polyposis Coli / genetics*
  • Adult
  • Colonic Neoplasms / drug therapy
  • Colonic Neoplasms / genetics*
  • Colonic Neoplasms / pathology
  • Colonic Neoplasms / surgery
  • DNA-Binding Proteins / genetics*
  • Fatal Outcome
  • Female
  • Gene Deletion*
  • Humans
  • Microsatellite Instability
  • MutS Homolog 2 Protein / genetics*
  • Mutation*
  • Pedigree

Substances

  • DNA-Binding Proteins
  • G-T mismatch-binding protein
  • MSH2 protein, human
  • MutS Homolog 2 Protein