摘要目的 探讨c-kit基因突变对胃肠道间质瘤(GIST)预后的影响.方法 通过电子检索PubMed、MedLine数据库,对1999年1月至2008年8月有关c-kit基因突变对GIST预后影响相关病例对照研究资料,用RevMan 5.0.15软件进行荟萃分析.结果 共纳入文献16篇,共计患者1751例.其中与细胞病理学相关统计显示c-kit基因野生型与突变型在有丝分裂计数>5/50 HPF(高倍视野)的病例发生率上差异无统计学意义(P=0.710);与术后复发转移发生率相关统计显示,c-kit基因突变型术后复发转移的发生率显著高于野生型者(P=0.010);与伊马替尼疗效相关统计显示,c-kit基因突变型患者伊马替尼治疗缓解率显著高于野生型(P=0.009),而伊马替尼耐药率较低(P=0.000).亚组分析发现,外显子11突变型的患者伊马替尼治疗缓解率显著高于野生型和外显子9突变型者(P均<0.05),而伊马替尼耐药率较低(P均<0.05).c-kit基因二次突变与伊马替尼获得性耐药相关研究发现,二次突变区域集中在外显子13、14和17,部分为混合型突变.结论 c-kit基因突变与GIST术后复发转移的发生有着密切关系,c-kit基因突变可能会影响伊马替尼的疗效,而二次突变的发生可能是GIST产生耐药的主要原因之一.

abstractsObjective To investigate the effect of c-kit mutation on the prognosis of gastrointestinal stremal tumors. Methods A search of studies in PubMed and MedLine (from 1999 to 2008) was performed to assess the effect of c-kit mutation on the prognosis of gastrointestinal strernal tumors. The articles were retrieved with the entries of "gastrointestinal stromal tumors", "imatinib" ,"c-kit" and "mutation". A recta-analysis was performed to assess the data included. Results A total of 15 articles were collected in this analysis. No significant differences was found in incidence of mitoses ( >5/50 HPF) between the patients with wild type c-kit (wild type group) and the ones with mutated c-kit (mutation group) (P=0.710); tumor recurrence and metastasis rate after surgery was significant higher in the mutation group than that in wild type group(P=0.010) ; as for imatinib response with different c-kit mutation types, the results showed the incidence of clinical response(complete response + partial response) was significantly higher in mutation group than that in wild type group(P =0. 009) ,but the imatinib resistance rate was lower in mutation group (P=0.000) ; three studies prodded data for imatinib resistance with c-kit second mutations, the results showed the second mutations mainly focus on exon 13, 14, 17. Conclusions C-kit mutation is related closely with the incidence of recurrence and metastasis in GIST after surgery. The mutations of c-kit influences the therapeutic effects of imatinib.