高通量测序平台对卵巢癌基因突变的检测及意义  

Genetic mutation analysis of human ovarian cancer using next-generation sequencing platform

作　　者：姜向阳[1] 李兴珍[1] 刘文康[1] 吴志新[1] 李帅帅[1] 张恩科[1] 赵清侠[1] 

机构地区：[1]陕西省人民医院,西安710068

出　　处：《陕西医学杂志》2017年第10期1346-1348,共3页Shaanxi Medical Journal

基　　金：西安市科技计划项目[SF1510(3)]

摘　　要：目的:利用高通量测序平台研究卵巢癌基因突变的分布和特点,寻找相应的突变靶点,并对突变位点的类型和频度进行分析。方法:取自临床上卵巢癌的组织石蜡标本16例,运用高通量基因测序Ion torrent PGM平台,对50个基因2835个位点进行检测。结果:50个基因中突变集中在EGFR、KDR、KIT、KRAS、NOTCH1、SMAD4、TP53等7个基因21个位点上。其中TP53突变比例高达75%,且突变点是4号外显子c.215C>G的比例最高。结论:卵巢癌患者可以根据基因突变靶点进行精准治疗,TP53的高突变比例提示其在肿瘤的发生发展中起着重要的作用,结合临床可为复发转移预测提供依据。Objective：Using NGS sequencing platform,study the distribution and characteristics of ovarian cancer gene mutations and look for targets of medicines;by analysis the mutation sites,types and frequency,combined with the tumor markers,predict the recurrence or metastasis,then screening,early intervention on a regular basis.Methods：16 cases from ovarian tissue paraffin specimens by clinically confirmed,using the high-throughput sequencing Ion torrent PGM platform,test the 2835 gene loci of 50 genes and the data analysis.Results：50 genes mutations were in the concentrated in EGFR,KDR,KIT,KRAS,NOTCH1 and SMAD4,TP53 seven 21 gene loci.TP53 mutations among the proportion were as high as 75%,and mutation of 4 exon c.215 CG has the highest percentage.Conclusion：The patients with ovarian cancer can be according to the target gene mutations in accurate treatment,TP53 high mutation rate suggests it plays an important role in the occurrence of tumor development,combined with clinical study can provide the basis for recurrent branch predictions.

关 键 词：卵巢肿瘤 基因转变 高通量核苷酸测序 基因 p53 

分 类 号：R737.31[医药卫生—肿瘤]