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 journalArticle

7 Citations (Scopus)

Abstract

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
Volume13
Issue number2
DOIs
StatePublished - Jun 2005
Externally publishedYes

Fingerprint

Gastrointestinal Stromal Tumors
Mutation
Proto-Oncogene Proteins c-kit
Oncogene Proteins
Vimentin
Codon
Exons
Neoplasms
Muscles
Imatinib Mesylate
Genes
Therapeutics

Keywords

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

ASJC Scopus subject areas

  • Anatomy
  • Medical Laboratory Technology

Cite this

Epithelioid gastrointestinal stromal tumor with PDGFRA activating mutation and immunoreactivity. / Yi, Eunhee S.; Strong, Curtis R.; Piao, Zhe; Perucho, Manuel; Weidner, Noel.

In: Applied Immunohistochemistry and Molecular Morphology, Vol. 13, No. 2, 06.2005, p. 157-161.

Research output: Contribution to journalArticle

Yi, Eunhee S. ; Strong, Curtis R. ; Piao, Zhe ; Perucho, Manuel ; Weidner, Noel. / Epithelioid gastrointestinal stromal tumor with PDGFRA activating mutation and immunoreactivity. In: Applied Immunohistochemistry and Molecular Morphology. 2005 ; Vol. 13, No. 2. pp. 157-161.
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