Epithelioid gastrointestinal stromal tumor with PDGFRA activating mutation and immunoreactivity

Eunhee S. Yi, Curtis R. Strong, Zhe Piao, Manuel Perucho, Noel Weidner

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


The authors report a unique case of an intra-abdominal, epithelioid mesenchymal tumor that had an activating mutation of PDGFRA and a strong PDGFRA immunoreactivity but lacked both c-kit mutation and c-kit protein (CD117) expression. IHC study showed that the tumor cells were diffusely and strongly positive for PDGFRA, vimentin, CD34, and Bcl-2 but completely negative for CD117 as well as for muscle, epithelial, endothelial, endocrine, mesothelial, neural, and melanocytic cell markers. Molecular study revealed a mutation at the juxtamembrane domain of exon 12 in PDGFRA gene with GTC to GAC transition at codon 561 (V561D), as shown in the previous mutational studies on gastrointestinal stromal tumor (GIST). This case likely represents an example of GIST with PDGFRA activating mutation and PDGFRA immunoreactivity without CD117 positivity, which has not been documented in the literature. STI 571 (imatinib mesylate [Gleevec]) might be an effective therapy in this case, since Gleevec targets both PDGFRA and c-kit oncoproteins.

Original languageEnglish (US)
Pages (from-to)157-161
Number of pages5
JournalApplied Immunohistochemistry and Molecular Morphology
Issue number2
StatePublished - Jun 1 2005


  • CD117
  • Epithelioid
  • GIST
  • Gastrointestinal stromal tumor
  • Gleevec
  • Imatinib mesylate
  • Immunohistochemistry
  • Mutation
  • STI 571
  • c-kit

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology
  • Medical Laboratory Technology


Dive into the research topics of 'Epithelioid gastrointestinal stromal tumor with PDGFRA activating mutation and immunoreactivity'. Together they form a unique fingerprint.

Cite this