摘要
目的研究分析胃肠道间质瘤(GIST)中c-kit基因及PDGFRα基因突变特点与规律。方法用PCR扩增和基因测序的方法检测50例胃肠道间质瘤组织中c-kit基因第9、11、13外显子和PDGFRΑ基因第12、18外显子的序列。结果在50例成功检测序列的GIST中共检测到c-kit基因突变32例,PDGFRα基因的突变共检测到2例。结论①大部分的GIST存在c-kit基因的突变,在无c-kit基因突变的GIST中有一部分存在PDGFRα基因的突变。②c-kit基因突变主要集中在第11号外显子。突变的方式频率由高到低依次为点突变、缺失突变和串联重复插入。③胃GIST中c-kit exon11突变率较小肠、结直肠及胃肠道外GIST的突变率高。
Objective To study the mutation of c-kit and PDGFRα gene in gastrointestinal stromal tumors （GIST） and their possible relationship with primary tumor site and location. Methods In 50 cases of GIST exon 9, 11, 13 of c-kit gene and exon 12, 18 of PDGFRα gene were sequenced by PCR amplification to analyze the rule of gene muta- tion in GIST. Results Among 50 case of GIST mutations of c-kit exone 11 were identified in 64% （32/50） ,including 15 cases of point mutation in-frame deletion, 11 case of in-frame deletion and 4 case of insert duplications. PDGFRα mutations were identified in 11.1% of no-c-kit-mutation GISTs and the 50%（2/4）of CDl17 negative GISTs, involv- ing exon 18 with mutations D842V and exon 12 with mutation S566I. Conclusion （1） c-kit mutation presents in most of the GIST. PDGFRα mutation was detected in some GIST without c-kit mutations.（2） c-kit gene mutations mainly concentrated in the exon 11 . The most commen type of mutation was point mutation,followed by deletion, insertion of tandem repeats. （3） c-kit mutation was higher in gastric than that in small intestine, colorectal, and extra-gastroin- testinal tract.
出处
《中国现代医生》
2013年第23期54-56,共3页
China Modern Doctor
