Analysis of C-Kit Exon 9, Exon 11 and BRAFV600E Mutations Using Sangers Sequencing in Gastrointestinal Stromal Tumours

Background Gastrointestinal stromal tumors (GIST) are the most common mesenchymal neoplasms in the gastrointestinal (GI) tract. The mutation of C-KIT is considered to be the crucial step in the tumorigenesis. Targeted therapies are being developed focusing these mutations. Various exon mutations of GIST responded in varied patterns to this targeted therapy. This study was carried out to evaluate the C-KIT exon 11, exon 9 and BRAF V600E mutations among GIST specimens. Methods This retrospective study was carried out among 20 DNA extracted specimens from paraffin blocks of GIST received in our tertiary teaching institution for a period of three years. DNA sequencing was carried out for mutational analyses on C-KIT exon 9, C-KIT exon 11 and BRAF V600E genes using Sanger sequencing. Results Histologically, majority of the tumors had spindle cell morphology. About 19 cases were positive for CD117. The analysis of type of mutations showed that three cases carried Exon 11 and three cases carried Exon 9 mutations. BRAF V600E mutation was seen in one case. Conclusion It is essential to conduct molecular studies on GISTs in order to get a clear understanding of the pathogenesis and behavior pattern. This will also help in designing targeted therapies and assessing recurrence. With the advent of rapidly evolving personalized therapy, the evaluation of genetic mutations is essential for diagnosis and prognostic value.