C-kit and PDGFRA gene mutations in triple negative breast cancer

Int J Clin Exp Pathol. 2014 Jun 15;7(7):4280-5. eCollection 2014.

Abstract

In this study, we evaluated C-kit immunohistochemical expression and C-kit and platelet derived growth factor receptor A (PDGFRA) gene mutations in triple negative breast cancer. 171 cases were analyzed by immunohistochemical staining for the expression of C-kit and 45 cases, including 10 C-kit negative cases and 35 C-kit positive cases, were performed for C-kit gene mutations in exons 9, 11, 13 and 17 and PDGFRA gene mutations in exons 12 and 18. C-kit expression was detected in 42.1% of triple negative breast cancers. Only 1 activating mutation was detected in exon 11 of C-kit gene in 1 case. No activating mutations were found in the other 44 cases. C-kit expression is a frequent finding in triple negative breast cancers; 1 activating mutation which was also found in gastrointestinal stromal tumors was detected; a few cases might benefit from imatinib.

Keywords: C-KIT; PDGFRA; immunohistochemical expression; mutation; triple negative breast cancer.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Carcinoma / genetics*
  • DNA Mutational Analysis
  • Female
  • Humans
  • Immunohistochemistry
  • Middle Aged
  • Mutation
  • Polymerase Chain Reaction
  • Proto-Oncogene Proteins c-kit / genetics*
  • Receptor, Platelet-Derived Growth Factor alpha / genetics*
  • Triple Negative Breast Neoplasms / genetics*
  • Young Adult

Substances

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