| 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. |
| 41例胃肠间质瘤c-Kit及PDGFRa基因突变分析 |
| Analysis of c-Kit and PDGFRa Gene Mutations in 41 Cases with Gastrointestinal Stromal tumor |
| 投稿时间：2013-08-28 |
| DOI：10.11735/j.issn.1671-170X.2013.11.B002 |
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| 中文关键词: 胃肠间质瘤 c-Kit PDGFRa 基因突变 |
| 英文关键词:gastrointestinal stromal tumor c-Kit PDGFRa gene mutation |
| 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） |
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| 中文摘要: |
| 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: |
| 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 exon 11(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 exon 18 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. |
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