胃肠道间质瘤中原癌基因c-kit突变及其蛋白表达

Expression and mutation of c-kit gene in gastrointestinal stromal tumor

目的 探讨c kit基因蛋白表达及基因突变在胃肠道间质瘤 (GIST)发病中的作用及其与临床病理、预后的关系。方法 采用免疫组化和聚合酶链反应单链构象多态性技术 (PCR SSCP)方法 ,检测 82例GIST中c kit蛋白的表达及c kit基因exon 11突变的情况。结果 全组c kit蛋白的阳性率为 97.6 % (80 / 82 ) ,c kit基因突变率为 4 1.5 % (34/ 82 )。良性GISTc kit蛋白表达率为 95 .0 %(19/ 2 0 ) ,c kit基因突变为阴性 ;恶性GISTc kit蛋白表达率为 98.4 % (6 1/ 6 2 ) ,c kit基因突变率为5 4 .8% (34/ 6 2 )。与基因突变阴性病例相比 ,突变阳性组的GIST容易出现邻近组织的侵袭、转移或者复发。结论 c kit蛋白是GIST的重要诊断指标 ;c kit基因突变在GIST发生发展中可能发挥重要作用 。

Objective To investigate the effect of the expression and mutation of c kit gene and its relationship with clinical pathology and prognosis of gastrointestinal stromal tumor (GIST) . Methods Immunohistochemical and PCR SSCP techniques were used to detect c kit protein expression and c kit gene exon 11 mutation in 82 patients with GIST. Results The positive c kit protein expression and c kit gene mutation rates were 97.6% (80/82) and 41.5% (34/82). Correlating the results of these two methods and clinicopathological factors, the c kit expression and c kit gene mutation rates were 95.0% (19/20) and 0 in benign GIST, and were 98.4% (61/62), 54.8% (34/62) in malignant GIST. Mutation positive GIST showed higher frequency of adjacent tissue invasion, metastasis and recurrence as compared with mutation negative ones. Conclusion c kit protein is an important diagnostic marker of gastrointestinal stromal tumor. c kit gene mutation may play a significant role in the pathogenesis of GIST and also may be a prognostic marker.