原癌基因c-kit突变在胃肠道基质瘤临床预后中的意义  

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

作　　者：王东杰[1] 毕建威[1] 马大烈[2] 

机构地区：[1]第二军医大学附属长海医院普外一科,上海200433 [2]第二军医大学附属长海医院病理科,上海200433

出　　处：《中国普通外科杂志》2006年第2期121-124,共4页China Journal of General Surgery

摘　　要：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1 0 6例GIST中c-kit基因突变的情况,并对其中的5 7例进行临床随访。结果全组基因突变率为4 5.3%(4 8/1 0 6);良性GISTc-kit基因突变率为4.9%(2/4 1),恶性GISTc-kit基因突变率为7 0.8%(4 6/6 5),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<0.0 0 5),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。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 c-kit 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.

关 键 词：胃肠肿瘤/诊断 基质瘤/诊断 预后 突变 癌基因c—kit 

分 类 号：R735[医药卫生—肿瘤] R730.262[医药卫生—临床医学]