胃肠道间质瘤KIT及PDGFRA基因突变的检测及分析

  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。 

Analysis of KIT and PDGFRA Mutations in Gastrointestinal Stromal Tumors

  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 formalin -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 e.xon 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 arc common in the majority of GISTs.and PDGFRA mutations exist in GISTS that lack a KIT mutation.