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41例胃肠间质瘤c-Kit及PDGFRa基因突变分析
引用本文:江 慧,宋 纯,张桂荣. 41例胃肠间质瘤c-Kit及PDGFRa基因突变分析[J]. 肿瘤学杂志, 2013, 19(11): 832-837
作者姓名:江 慧  宋 纯  张桂荣
作者单位:辽宁省肿瘤医院,大连医科大学临床肿瘤学院;辽宁省肿瘤医院,大连医科大学临床肿瘤学院;辽宁省肿瘤医院,大连医科大学临床肿瘤学院
基金项目:辽宁省医学高峰建设工程项目(2010077);辽宁省博士科研启动基金项目(20101059)
摘    要:[目的]探讨胃肠间质瘤(GIST)c-Kit、PDGFRa基因突变特点。[方法]收集41例GIST石蜡标本,采用直接测序法检测c-Kit外显子9、11、13、17,PDGFRa外显子12、18突变状态。[结果]41例GIST样本中34例(82.9%)检测到c-Kit或PDGFRa突变。其中c-Kit外显子9突变6例(14.6%),外显子11突变24例(58.5%),外显子13突变2例(4.9%),PDGFRa外显子18突变2例(4.9%)。c-Kit外显子9突变均发生在小肠,PDGFRa外显子18突变则主要见于胃。小肠间质瘤中c-Kit外显子9突变型占31.6%,显著高于其它部位(P〈0.05),而外显子11突变型占36.8%,显著低于其它部位(P〈0.05)。[结论]c-Kit/PDGFRa基因突变类型与GIST发生部位有关。约1/3小肠GIST患者存在c-Kit外显子9突变,在选择靶向药物治疗前应进行基因突变检测。

关 键 词:胃肠间质瘤  c-Kit  PDGFRa  基因突变
收稿时间:2013-08-28

Analysis of c-Kit and PDGFRa Gene Mutations in 41 Cases with Gastrointestinal Stromal tumor
Affiliation:JIANG Hui, SONG Chun,ZHANG Gui-rong, et al. (Liaoning Cancer Hospital & Institute ,Dalian Medical University Clinical Oncology College, Shenyang 110042, China)
Abstract:[Purpose] To investigate the characteristics of c-Kit and PDGFRa gene mutations in gastrointestinal stromal tumor(GIST).[Methods] Forty-one cases of paraffin embedded GIST specimens were collected. Mutations in c-Kit exon 9,11,13,17 and PDGFRa exon 12,18 of these specimens were analyzed by direct sequencing. [Results] Of all 41 cases with GIST,34 cases showed gene mutations. Six cases contained c-Kit mutations in exon 9(14.6%),24 cases in exon11(58.5%),2 cases in exon 13(4.9%) and 2 cases contained PDGFRa mutations in exon 18(4.9%). c-Kit exon 9 mutations were exclusively observed in small intestine,while PDGFRa exon18 mutations were mainly detected in stomach. In small intestine GIST,the proportion of c-Kit exon 9 mutations accounted for 31.6%,markedly higher than that in other locations(P〈0.05). However,the proportion of c-Kit exon 11 mutations was 36.8%,significantly lower than that of the other locations(P〈0.05). [Conclusion] The types of c-Kit/PDGFRa mutations are associated with the original site of GIST. About one third patients with small intestine GIST harbor c-Kit exon 9 mutations. It is crucial to analyze c-Kit or PDGFRa gene mutation status before target therapy for these patients.
Keywords:gastrointestinal stromal tumor  c-Kit  PDGFRa  gene mutation
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