目的：探讨胃肠间质瘤c－kit基因表达和外显子11突变与临床病理的关系。方法选取病理资料完整、诊断明确的胃肠间质瘤（ gastrointestinal stromal tumor， GIST）标本60例（其中15例标本同时收集新鲜标本组织），用免疫组织化学（ EnVision二步法）及Western－blot检测KIT蛋白表达；半定量RT－PCR方法检测c－kit基因的表达；通过聚合酶链式反应－单链构象多态（ PCR－SSCP）方法筛选c－kit基因外显子11突变病例。结果免疫组织化学检测结果：与高分化GIST相比，KIT蛋白在低分化GIST中表达强度较高（P＜0．05）。Western－blot结果发现，与低侵袭危险度GIST比，KIT成熟蛋白在中高侵袭危险程度GIST中表达量较高（P＜0．05）。 c－kit基因外显子11突变率为52％（31／60），发生在女性、肿瘤最大径＞5 cm、核分裂数＞5／50 HPF及中高度侵袭危险性的GIST外显子11突变率较高（P＜0．05）。在外显子11突变的GIST中成熟型KIT蛋白表达量较高（P＜0．05）。结论 KIT成熟蛋白可能在GIST发生、发展中起重要作用，并且与GIST高度侵袭危险性的生物学行为相关；c－kit基因外显子11突变可能是GIST恶性生物学行为的指标。%Objective To study the relationship of c-kit gene’ s expression and mutation in the exon 11 to clinicopatho-logical features of gastrointestinal stromal tumor ( GIST) .Met hods A total of 60 GIST specimens ( including 15 fresh sam-ples) were obtained from the Second Affiliated Hospital of Dalian Medical University.Immunohistochemistry, Western-blot and RT-PCR were used to analyze c-kit gene expression, and PCR-SSCP was used to detecte c-kit exon 11 muta-tion.Results KIT protein expression detected by immunohistochemistry was higher in poorly differentiated GIST ( P <0.05).The expression of KIT mature protein detected by western-blot was higher in the high invasion risk GIST (P<0.05).The frequency of c-kit gene exon 11mutation was 52 % (26/50), mainly in the cases of women more than 60 years old, maximum tumor diameter>5 cm, and the high invasion risk GIST (P<0.05).KIT mature protein expression is higher in GIST with exon 11 mutation (P<0.05).Conclu sions KIT mature protein expression might play an important role in the development of GIST and might associate with a high invasion risk c -kit gene exon 11 mutation might be an in-dicator of malignant biologic behavior in GIST.
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