胃肠道间质瘤KIT及PDGFRA基因突变的检测及分析  

Analysis of KIT and PDGFRA Mutations in Gastrointestinal Stromal Tumors

作　　者：张秀敏[1] 林慧[1] 叶菁[1] 郭风[2] 袁媛[1] 隋延仿[1] 李增山[1] 

机构地区：[1]第四军医大学基础部病理学与病理生理学教研室,西安市710032 [2]第四军医大学西京消化病医院

出　　处：《中国肿瘤临床》2012年第10期660-665,共6页Chinese Journal of Clinical Oncology

基　　金：国家高技术研究发展计划"863"计划(编号:2007AA02Z470);国家自然科学基金(编号:30901735);西安市攻关计划项目(编号:SF1028)资助~~

摘　　要：目的:检测胃肠道间质瘤(gastrointestinal stromal tumors,GISTs)KIT及PDGFRA基因的突变位点及类型,探讨其在GIST发病机制中的作用。方法:收集西京医院病理科2006年10月至2010年10月胃肠道间质瘤病例38例,男性20例(52.6%),女性18例(47.4%),从福尔马林固定石蜡包埋(formalin-fixed paraffin-embedded,FFPE)组织中提取基因组DNA。通过PCR扩增目的片段后测序,检测38例样本的KIT和PDGFRA基因突变类型。结果:在38例样本中共检测出KIT基因突变34例,其中32例发生在外显子1 1,突变形式有点突变、插入突变与缺失突变;2例发生在外显子9,均为重复性突变。同时还检出PDGFRA基因突变1例,其余3例样本为野生型。结论:大多数GISTs中存在KIT基因的突变,PDGFRA基因突变可见于部分缺乏KIT突变的GIST中。Objectives： This study aims to detect the mutant sites and types of PDGFRA genes in gastrointestinal stromal tumors （ GISTs ） and investigate the role of these genes in the pathogenesis of GISTs. Methods： Genomic DNA was extracted from forma- lin-fixed paraffin-embedded （ FFPE ） tissues. Polymerase chain reaction and direct sequencing were performed to determine mutant types. Results： KIT mutations were identified in 34 out of 38 samples, involving 2 repeat mutations in exon 9 and 32 mutations in exon 11. The mutant types in exon 11 included point, insertion, and deletion mutations. Only one sample had PDGFRA mutation. The other three samples were wild types. Conclusion： KIT mutations are common in the majority of GISTs, and PDGFRA mutations exist in GISTS that lack a KIT mutation.

关 键 词：胃肠道间质瘤 石蜡组织 KIT PDGFRA 基因突变 

分 类 号：R735[医药卫生—肿瘤]