Gastrointestinal stromal tumor with two genetic abnormalities on different alleles: report of a case

Surg Today. 2010 Mar;40(3):262-6. doi: 10.1007/s00595-008-4029-7. Epub 2010 Feb 24.

Abstract

We report a case of a gastrointestinal stromal tumor (GIST) with strong and faint KIT protein staining, respectively, at two different sites. A single point mutation (c1727 T>C) was detected in DNA extracted from both sites, and a further deletion mutation (c1678_1680 del GTT) was detected in DNA from the site with strong KIT protein staining. Cloning analysis indicated that the point mutation and the deletion were present on different alleles.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Alleles
  • Female
  • Gastrointestinal Stromal Tumors / diagnosis
  • Gastrointestinal Stromal Tumors / genetics*
  • Humans
  • Intestinal Neoplasms / diagnosis
  • Intestinal Neoplasms / genetics*
  • Intestine, Small
  • Neoplasm Recurrence, Local
  • Point Mutation
  • Proto-Oncogene Proteins c-kit / genetics*
  • Sequence Deletion

Substances

  • Proto-Oncogene Proteins c-kit