胃肠道间质瘤组织中PDGFRα和C-kit基因突变和蛋白表达的关系  

Relationship of Plateletderived growth factor receptorαand C-kit gene mutations and expression in gastrointestinal stromal tumors

作　　者：王彦丽[1] 赵向荣[1] 白辰光[1] 杨蕾[1] 马大烈[1] 

机构地区：[1]中国人民解放军第二军医大学附属长海医院病理科,上海市200433

出　　处：《世界华人消化杂志》2007年第21期2300-2305,共6页World Chinese Journal of Digestology

基　　金：国家自然科学基金;No.30471702

摘　　要：目的:检测胃肠道间质瘤(GIST)中PDGFRα和C-kit基因突变及其蛋白表达的关系及在肿瘤形成中的作用.方法:采用单链象多态性聚合酶链式反应(PCR-SSCP),免疫组化和蛋白印迹(Western blot)方法,检测GIST 52例中PDGFRα和C-kit基因突变及蛋白表达情况.结果:GIST 52例中PDGFRα基因突变5例(9.6%),多见于梭形细胞型的胃源性GIST,C-kit基因突变28例(53.8%),多发生于小肠,并且这两种基因突变互相独立;PDGFRα蛋白表达率100%,C-kit蛋白的表达率为94.2%,突变的5例GIST PDGFRα强于C-kit突变的GIST,正常胃肠道组织和神经鞘瘤:突变与C-kit蛋白表达之间没有显著相关性(P=0.5332),而突变与PDGFRα蛋白表达之间呈显著相关性(P<0.0001).结论:GIST中PDGFRα和C-kit突变在部分GIST肿瘤发生过程中发挥了重要作用;突变位点与起源部位和组织学类型有关;大多GIST中蛋白表达与其基因突变关系密切.AIM： To detect platelet-derived growth factor receptor α（PDGFRα） and C-kit gene mutations and protein expression, and to discuss the relationship between the two genes. In addition, to discuss the important role of the PDGFRα mutation in the tumorigenesis of gastrointestinal stromal tumors （GISTs）. METHODS： PDGFRα and C-kit gene mutations and protein expression in 52 cases of GIST were detected by polymerase chain reaction singlestrand conformation polymorphism, immunohistochemistry and Western blotting. RESULTS： PDGFRα gene mutations were detected in five cases （9.6%） among the 52 GISTs. Most had spindle histology and were of gastric origin. The C-kit mutation was found in 28 cases （53.8%）. Most were small intestinal origin; tumors with C-kit mutation were not examined for PDGFRα mutation. The rate of PDGFRα protein expression was 100%. In five cases of GIST with PDGFRα gene mutations, the corresponding protein expression was higher than that in cases with C-kit gene mutations, or in normal GI tissues and schwannomas. The rate of C-kit protein expression was 94.2% （49/52）. Mutations were unrelated to C-kit protein expression （P = 0.5332）. The presence of mutations correlated with PDGFRα protein expression （P 〈 0.0001）. CONCLUSION： Our results suggest that PDGFRα and C-kit mutations play an important role in the tumorigenesis of GIST. The location of mutations is associated with the site of origin and histological phenotype. Protein expression will not always be associated with a corresponding gene mutation and is only a diagnostic aid.

关 键 词：胃肠道间质瘤 血小板源性生长因子受体α C-KIT 基因突变 蛋白印迹 单链构象多态性 

分 类 号：R735[医药卫生—肿瘤]