| 胃肠道间质瘤的c-kit基因突变检测 |
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| 引用本文： | 杨锋,丁宝国,杨堂斗,贺慧颖,钟镐镐,李燕,郑杰,吴秉铨. 胃肠道间质瘤的c-kit基因突变检测[J]. 青岛大学医学院学报, 2008, 44(1): 19-20 |
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| 作者姓名： | 杨锋 丁宝国 杨堂斗 贺慧颖 钟镐镐 李燕 郑杰 吴秉铨 |
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| 作者单位： | 胶南市人民医院外科,山东,青岛,266400;北京大学基础医学院病理学系 |
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| 摘 要： | 目的 探讨CD117阳性的胃肠道间质肿瘤(GIST)c-kit基因突变分布及类型.方法 采用免疫组化技术,对10例GIST标本行CD117、CD34、SMA和S-100检测,以确诊为GIST;采用PCR技术对CD117阳性的GIST进行c-kit基因突变检测;采用直接测序方法对突变c-kit基因11、9、13和17号的外显子突变进行序列分析.结果 4例成功提取了肿瘤DNA,其中3例检出了c-kit基因突变,均分布于第11号外显子,均为557～558(WK)的缺失性突变;其中2例为纯合子性突变,1例为杂合子性突变.结论 CD117阳性的GIST通常有c-kit基因突变,其11号外显子是经典分布热点,变异纯合子和杂合子突变为常见类型.
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| 关 键 词： | 胃肠道间质肿瘤 DNA突变分析 c-kit基因 |
| 文章编号： | 1672-4488(2008)01-0019-03 |
| 修稿时间： | 2007-06-06 |
DETECTION OF GASTROINTESTINAL STROMAL TUMOR c-kit GENE MUTATION |
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| YANG FENG,DING BAO-GUO,YANG TANG-DOU,et al. DETECTION OF GASTROINTESTINAL STROMAL TUMOR c-kit GENE MUTATION[J]. Acta Academiae Medicinae Qingdao Universitatis, 2008, 44(1): 19-20 |
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| Authors: | YANG FENG DING BAO-GUO YANG TANG-DOU et al |
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| Affiliation: | YANG FENG,DING BAO-GUO,YANG TANG-DOU,et al (Department of Surgery,Jiaonan People's Hospital,Qingdao 266400,China) |
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| Abstract: | Objective To explore the locus and types of c-kit(CD117) mutations in gastrointestinal stromal tumors(GIST). Methods Specimens of 10 GIST cases were detected immunohistologically for CD117,CD34,SMA and S-100 to confirm the diagnosis of GIST.For CD117-positive GIST,the mutation of c-kit was detected by PCR,and its exons 11,9,13 and 17 analyzed by direct sequencing technique. Results DNA was successfully isolated in four cases,in which,mutation of c-kit was found in three cases,all the genes detected were at ... |
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| Keywords: | Gastrointestinal stromal tumor DNA mutationa analysis c-kit gene |
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