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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 ,可作为判断GIST患者预后的指标之一
Objective To investigate the role of c kit gene protein and gene mutation in the pathogenesis of gastrointestinal stromal tumors (GIST) and its relationship with clinicopathology, prognosis. Methods The expression of c kit protein and exon 11 mutation of 82 cases of GIST were detected by immunohistochemistry and polymerase chain reaction single strand conformation polymorphism (PCR SSCP). Results The positive rate of c kit protein was 97.6% (80/82) in all patients, and the rate of c kit gene mutation was 41.5% (34/82). The positive rate of malignant GISTc kit was 95.0% (19/20) and the mutation of c kit gene was negative. The rate of malignant GISTc kit protein expression was 98.4% (61/62) and the rate of c kit gene mutation was 54 .8% (34/62). Compared with negative cases of gene mutation, GIST in the mutation-positive group is prone to invasion, metastasis or recurrence of adjacent tissues. Conclusion c kit protein is an important diagnostic indicator of GIST. C kit gene mutation may play an important role in the occurrence and development of GIST and may be used as one of the prognostic indicators in GIST