胃肠间质瘤c-Kit和PDGFRA基因突变分析  

Analysis of c-Kit and PDGFRA Gene Mutation in GIST

作　　者：孙浩[1] 李卫[1] 孙可心[2] 

机构地区：[1]广西医科大学附属重庆市肿瘤医院胃肠外科,重庆市400030 [2]重庆医科大学医学一系

出　　处：《解放军医药杂志》2015年第12期36-40,共5页Medical & Pharmaceutical Journal of Chinese People’s Liberation Army

基　　金：重庆市卫生局医学科研计划项目(2012-2-512)

摘　　要：目的分析胃肠间质瘤(gastrointestinal stromal tumor,GIST)跨膜酪氨酸激酶受体c-Kit和血小板源性生长因子受体(platelet-derived growth factor,PDGFRA)基因的突变特征。方法对57例GIST石蜡标本进行DNA提取、PCR扩增和直接测序,检测c-Kit外显子9、11、13、17和PDGFRA外显子12、18突变状态。结果 57例GIST标本中共检出44例(77.2%)c-Kit/PDGFRA基因杂合性突变,未检测到纯合性突变。其中,c-Kit exon9突变9例(15.8%),c-Kit exon11突变32例(56.1%),c-Kit exon13突变2例(3.5%),PDGFRA 18突变1例(1.8%),c-Kit/PDGFRA均未检测到突变的13例(22.8%)。结论中国人群c-Kit/PDGFRA突变比例高,突变类型多样,其中c-Kit外显子11比例高,进行c-Kit/PDGFRA基因分型有助于靶向药物伊马替尼的选择和剂量估计。Objective To analyze mutation characteristics of transmembrane receptor tyrosine kinase c-kit and platelet-derived growth factor（ PDGFRA） genes in gastrointestinal stromal tumor（ GIST） patients. Methods DNA extraction,PCR amplification and direct sequencing were performed in 57 paraffin-embedded GIST specimens in order to detect mutations of t-RTKS exon 9,11,13 and 17 and PDGFRA exon 12 and 18. Results A total of 44 cases（ 77. 2%） of c-Kit/PDGFRA gene heterozygous mutation were detected among the 57 GIST specimens,but there was no homozygosity mutation. There were 9 cases（ 15. 8%） of t-RTKS exon 9 mutations,32 cases（ 56. 1%） of t-RTKS exon11 mutations,2 cases（ 3. 5%） of t-RTKS exon 13 mutations,1 case（ 1. 8%） of PDGFRA exon 18 mutation and 13 cases（ 22. 8%） without t-RTKS / PDGFRA mutations. Conclusion The t-RTKS / PDGFRA has high mutations rates in Chinese population with diverse mutation types,and mutations rate of t-RTKS exon 11 is high. The t-RTKS / PDGFRA genotyping may help to choose targeted drug Imatinib and evaluate the dose.

关 键 词：胃肠间质瘤 C-KIT PDGFRA 基因突变 

分 类 号：R735[医药卫生—肿瘤]