A c-kit-negative gastrointestinal stromal tumor with a platelet-derived growth factor receptor alpha mutation

Appl Immunohistochem Mol Morphol. 2006 Mar;14(1):52-6. doi: 10.1097/01.pai.0000156866.84350.ec.

Abstract

Gastrointestinal stromal tumors (GISTs) are well-recognized mesenchymal neoplasms of the intestinal tract. A diagnosis of GIST is not always possible using IHC techniques for detection of c-kit. The authors describe a 64-year-old man who presented with an upper abdominal quadrant mass. Histology showed a predominantly epithelioid neoplasm with focal "spindle cell" areas. IHC studies were positive for muscle markers and negative for c-kit. The morphologic and immunophenotypic appearance could be compatible with either a smooth muscle tumor or a GIST. Because of the differences in treatment protocols and prognosis between these two entities, molecular studies to detect c-kit or platelet-derived growth factor receptor (PDGFR) activating mutations were performed. No mutations were found in the c-kit gene, but a mutation was detected in the PDGFR gene. This additional molecular study allowed the authors to formulate the precise diagnosis of a c-kit-negative GIST with strong smooth muscle marker expression.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Base Sequence
  • DNA Mutational Analysis
  • Desmin / metabolism
  • Gastrointestinal Stromal Tumors / genetics*
  • Gastrointestinal Stromal Tumors / metabolism
  • Gastrointestinal Stromal Tumors / pathology*
  • Humans
  • Immunohistochemistry
  • Male
  • Molecular Sequence Data
  • Mutation
  • Proto-Oncogene Proteins c-kit / analysis*
  • Proto-Oncogene Proteins c-kit / genetics
  • Receptor, Platelet-Derived Growth Factor alpha / genetics*

Substances

  • Desmin
  • Proto-Oncogene Proteins c-kit
  • Receptor, Platelet-Derived Growth Factor alpha