Status and clinical impficafion of c-kit and PDGFRA mutations in gastrointestinal stromal tumor

Objective To explore the starus of activating mutations of c-kit and PDGFRA in gastrointestinal stromal tumor (GIST) of Chinese patients.Methods The clinic and pathological data of a series of patients with gastrointestinal stromal tumors in 2008-2009 yrs were analyzed retrospectively.Exon 9,11,13,17 of c-kit and exon 12,18 of PDGFRA were analyzed by direct sequencing.Results c-kit mutations were detected in 70.0% of patients as follows :56.5% in exon 11 ,8.7% in exon 9,4.3% in exon 13 and none in exon 17.PDGFRA mutations were present in 13.0% of CD1 17-negative GIST,8.7% in exon 18,4.3% in exon 12.Conclusion The vast majority of GIST in this study harbored c-kit and PDGFRA mutation.Most CD117 expressing GIST show c-kit mutations that are preferentially in exon 11.PDGFRA genic mutations are more likely seen in kit-negative GISTs. Key words: Gastrointestinal neoplasm;  Proto-oncogene protein c-kit;  Mutation;  Sequence analysis