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AIM:To investigate the expression and mutation of c-kitgene and its correlation with the clinical pathology andprognosis of gastrointestinal stromal tumors (GISTs).METHODS:A total of 94 cases of GISTs,10 leiomyomasand 2 schwannomas were studied for the expression of KITby immunohistochemistry.The c-kit gene mutations in exon11 of these specimens were detected by PCR-SSCP technique.RESULTS:Of the 94 cases of GISTs,91 (96.8 %) expressedthe KIT protein.Leiomyomas and schwannomas werenegative for KIT.The c-kit gene mutations of exon 11 werefound in 38 out of the 94 cases of GISTs (40.4 %).Themutations involved point mutations (Va1560-Asp,Ile563-Met),del 557-559 and 579ins12.No mutations were detectablein benign GISTs,leiomyomas or schwannomas.The patientswith mutation-positive GISTs showed more frequentrecurrences,invasion and metastasis in adjacent tissues thanthose with mutation-negative ones.CONCLUSION:KIT is a useful marker for diagnosis of GISTs.Mutation of the c-kit gene may play a significant role in thepathogenesis of GISTs and may be associated with poorprognosis in patients with GISTs.
AIM: To investigate the expression and mutation of c-kit gene and its correlation with the clinical pathology and prognosis of gastrointestinal stromal tumors (GISTs). METHODS: A total of 94 cases of GISTs, 10 leiomyomas and 2 schwannomas were studied for the expression of KITby immunohistochemistry The c-kit gene mutations in exon11 of these specimens were detected by PCR-SSCP technique. RESULTS: Of the 94 cases of GISTs, 91 (96.8%) expressedthe KIT protein. Leiomyomas and schwannomas were negative for KIT.The c-kit gene Mutations of exon 11 were found in 38 out of the 94 cases of GISTs (40.4%). The mothers involved point mutations (Va1560-Asp, Ile563-Met), del 557-559 and 579ins12. Novel mutations were detectable in benign GISTs, leiomyomas or schwannomas The patientswith mutation-positive GISTs showed more frequent recurrences, invasion and metastasis in adjacent tissues thanthose with mutation-negative ones. CONCLUSION: KIT is a useful marker for diagnosis of GISTs. Mutation of the c-kit gene may play as ignificant role in the pathogenesis of GISTs and may be associated with poor prognosis in patients with GISTs.