Analysis of c-KIT exon 11 mutations in canine gastrointestinal stromal tumours

Vet J. 2016 Jan:207:118-123. doi: 10.1016/j.tvjl.2015.10.051. Epub 2015 Nov 2.

Abstract

The aim of this study was to determine the type and frequency of c-KIT exon 11 mutations in canine gastrointestinal stromal tumours (GISTs) and investigate the association between the c-KIT mutation status and KIT immunohistochemical staining pattern. Mutations in exon 11 of c-KIT were examined in 46 formalin-fixed paraffin-embedded canine GISTs using PCR of genomic DNA and reverse transcription-PCR (RT-PCR) of cDNA. Exon 11 c-KIT mutations were detected in 15/46 (32.6%) cases by conventional PCR and 34/46 (73.9%) cases by RT-PCR; the mutation detection rate was significantly higher for RT-PCR (P = 0.004, Fisher's exact test). Ten different mutations, including deletion, internal tandem duplication and point mutations, were identified by RT-PCR. Immunohistochemistry was performed using an anti-KIT antibody; diffuse KIT staining was detected in the tumour cell cytoplasm in 32/46 (69.6%) cases and partial or stippled cytoplasmic staining of KIT was observed in 14/46 (30.4%) cases. Neither pattern was significantly associated with c-KIT exon 11 mutation status (P = 1.000, chi-square test). These data indicate that c-KIT exon 11 mutations occur frequently in canine GISTs, similar to human GISTs; however, there is no association between c-KIT mutations and the KIT expression pattern in canine GISTs. This study suggests that RT-PCR is more sensitive than conventional PCR for the detection of c-KIT mutations in canine GISTs.

Keywords: Canine; Gastrointestinal stromal tumours; Immunohistochemistry; Mutation; c-KIT.

MeSH terms

  • Animals
  • Dog Diseases / genetics*
  • Dogs
  • Exons*
  • Gastrointestinal Stromal Tumors / genetics
  • Gastrointestinal Stromal Tumors / veterinary*
  • Humans
  • Immunohistochemistry / veterinary
  • Mutation Rate
  • Mutation*
  • Proto-Oncogene Proteins c-kit / genetics*
  • Real-Time Polymerase Chain Reaction / veterinary
  • Species Specificity

Substances

  • Proto-Oncogene Proteins c-kit