An immunohistochemical and molecular study of gastrointestinal stromal tumours.

Gastrointestinal stromal tumour (GIST) is a rare but most common mesenchymal tumour in the gastrointestinal tract. Although GIST research has been carried out extensively worldwide, it has yet to be studied in Malaysia. To establish the immunohistochemical expression pattern of CD117 (c-KIT), CD34, S-100 and Desmin, the incidence of c-KIT and PDGFRA genes mutation in GISTs, and correlate it with clinicopathological parameters. Eleven clinically diagnosed GISTs were stained for CD117, CD34, Desmin and S-100 protein by immunohistochemical technique, and c-KITand PDGFRA gene mutations were studied by PCR-CSGE-DNA sequencing method. All GISTs (7 cases) stain positive for CD117, and co-expressed CD34. None of these cases express Desmin, and only one expressed S-100 protein focally. Fifty-seven percent (4/7 cases) of GIST harboured mutations at exon 11 of c-KIT gene, and they were all high risk and malignant cases. No mutation was detected at exons 9, 13 and 17 of KIT gene, and exons 12 and 18 of PDGFRA gene. Immunohistochemistry using a panel of antibodies shows consistent pattern of CD117 and CD34 expression in GIST, and mutational study may be a useful prognostic marker for kinase inhibitor treatment of GIST.