The value of c-kit mutational analysis in a cytokeratin positive gastrointestinal stromal tumour

J Clin Pathol. 2005 Sep;58(9):991-3. doi: 10.1136/jcp.2004.024364.

Abstract

The expression of cytokeratins in gastrointestinal stromal tumours (GISTs) is rare and may lead to diagnostic confusion when it occurs. This report describes a metastatic GIST that stained strongly for cytokeratins, CD117, and CD34 in a patient who was previously diagnosed with gastric epithelioid angiosarcoma. A review of both tumours showed the same histological and immunohistochemical profiles, and c-kit molecular analysis revealed an insertional mutation at codon 558 of exon 11 in both tumours. Thus, pathologists should be aware that GISTs can occasionally express cytokeratins, and that c-kit mutational investigations may have a key diagnostic role and may prevent diagnostic mistakes that could have important clinical implications.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biomarkers, Tumor / metabolism
  • Diagnosis, Differential
  • Female
  • Gastrointestinal Stromal Tumors / diagnosis*
  • Gastrointestinal Stromal Tumors / secondary
  • Hemangiosarcoma / diagnosis
  • Humans
  • Keratins / metabolism*
  • Mutation*
  • Pelvic Neoplasms / diagnosis
  • Pelvic Neoplasms / secondary
  • Proto-Oncogene Proteins c-kit / genetics*
  • Stomach Neoplasms / diagnosis*

Substances

  • Biomarkers, Tumor
  • Keratins
  • Proto-Oncogene Proteins c-kit