c-kit and PDGFRA gene mutation in gastrointestinal stromal tumors and its significance / 中国癌症杂志

ABSTRACT

Background and purpose:Gastrointestinal stromal tumor(GIST) is the most common mesenchymal tumor of the digestive tract. The mutation status of c-kit and PDGFRA gene in GIST appear to be in correlation with gleveec therapy. However, the prognostic significance of c-kit and PDGFRA mutations in GIST is still controversial. We investigated the status and significance of c-kit and PDGFRA gene mutation in GIST. Methods: Mutation of c-kit (exon 9,11,13,17) and PDGFRA gene (exon 12,18) in 50 cases of GIST were examined by PCR amplification and direct sequencing. Results:Mutations of c-kit exon 11 were identified in 54% (27/50) of patients and were heterogeneous, including 16 cases of in-frame deletion,10 cases of point mutation and 1 case of the two type mutation. These mutations mostly were clustered in 550-560 "hot spots" code at the 5′ end of the exon 11.1 case with mutation was detected in 2 cases of CD117-negative GIST. There was significant relationship between mutations of c-kit exon 11 and the categories of cell type (P0.05), respectively. Conclusion:c-kit mutation was common in GIST and had relatively fixed tendency and mostly was detected in spindle-cell GIST.The presence of c-kit mutation is not a significant prognostic factor in GIST.