中文摘要：

[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。

英文摘要：

[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.