原癌基因c-kit突变在胃肠道基质瘤临床预后中的意义

目的 探讨c—kit基因突变对胃肠道基质瘤（GIST）的发病及在临床病理和预后中的意义。方法 采用聚合酶链反应单链构象多态性技术（PCR—SSCP）方法检测106例GIST中c-kit基因突变的情况，并对其中的57例进行临床随访。结果全组基因突变率为45．3％（48／106）；良性GISTc-kit基因突变率为4．9％（2／41），恶性GISTc—kit基因突变率为70．8％（46／65），c-kit基因突变阳性组的1，3，5年生存率及中位生存期均明显低于突变阴性组。对肿瘤大小、肿瘤性坏死、浸润程度、核分裂象计数、核异型性等指标的比较，突变阳性组和阴性组均存在显著差异（P〈0．005）。邻近组织的侵袭及肿瘤的转移、复发的发生率突变阳性组均明显高于突变阴性组。结论 c—kit基因突变在GIST的发生发展中可能发挥着重要作用，可以作为判断GIST患者临床预后的一个重要指标。

Significance of the mutation of c-kit gene in the clinical prognosis of gastrointestinal stromal tumor

Objective To investigate the significance of the mutation of c-kit gene in the development,(clinical) pathology and prognosis of gastrointestinal stromal tumors(GISTs).Methods The technique of(PCR-SSCP) was used to detect ckit gene mutation in 106 cases of GIST,and 57 of the cases were(followed-up).Results The c-kit gene mutation rate in the whole group was 45.3%(48/106),and(3.4)%(2/41) in benign GIST,and 70.8%(46/65) in malignant GIST.The 1-,3 and 5-year survival rates and median survival time of the mutation positive group were all markedlly lower than those of the(mutation) negative group.A comparison of the parameters that can differentiate the benign GISTs from malignant ones such as size,histological necrosis,aggressive grade,nucleus mitotic count and nuclear discrepancy,showed significant difference between the of postive and negative gene mutation(P<0.005),and the(occurrence) rates of tumor invasion into neighboring structures,metastasis and recurrence in mutation positive group were all obviously higher than those in mutation negative group.Conclusions Mutation of c-kit can play an important role in the occurrence and development of GIST,and it may be an important marker to(predict) the clinical prognosis of GIST patients.