采用高通量测序技术检测肺癌致病突变及靶向药物突变位点

发布时间：2018-03-29 05:37

本文选题：二代测序　切入点：Ion　出处：《应用与环境生物学报》2017年01期

【摘要】：Ion Torrent高通量测序平台可通过测序癌症病人的基因组,找出致病突变位点进而选择对应的靶向药物以更加有效地治疗并减少毒副作用.利用Ion Torrent平台共检测了55例非小细胞肺癌组织的甲醛固定石蜡包埋样本(FFPE样本),对测序结果进行分析并找出致病突变位点.其中,30(54.5%)例样本有抑癌基因TP53的突变,突变类型一共包括36种,是突变频率最高的一个基因.突变频率次高的基因是EGFR,检测到17(30.9%)例病人共8种突变类型.突变频率第三高的是ERBB4(HER4,与EGFR同属HER家族),检测到14(25.5%)例病人共两类突变.此外,还有其他突变频率较高的基因,如MLH1(8例,14.5%)、KRAS(6例,10.9%)、PIK3CA(5例,9.1%)等.本研究表明通过提取肺癌病人FFPE样本中的DNA并使用Ion Torrent平台测序可以找到致病突变,可用于指导医生进行更好的靶向药物治疗.
[Abstract]:The Ion Torrent high-throughput sequencing platform can be used to sequence the genomes of cancer patients. To find out the pathogenicity mutation sites and then select the corresponding target drugs to treat and reduce the side effects more effectively. The formaldehyde-fixed paraffin embedded samples of 55 cases of non-small cell lung cancer were detected by Ion Torrent platform. The results of sequencing were analyzed and the pathogenicity mutation sites were found. Among them, there was a mutation of tumor suppressor gene TP53 in the samples. There are 36 mutation types, The gene with the highest mutation frequency was EGFR, which was detected in 17 / 30.9) patients with 8 mutation types. The third highest mutation frequency was ERBB4 / HER4, which belonged to the HER family of EGFR. There are also other genes with high mutation frequency, such as MLH1(8 with 14.5A and KRAS6 with 10.9% PIK3CAA, etc. This study shows that pathogenic mutations can be found by extracting DNA from FFPE samples from patients with lung cancer and sequencing using Ion Torrent platform. Can be used to guide doctors for better targeted drug therapy.
【作者单位】：重庆市大足区疾病预防控制中心;重庆市大足区第二人民医院;
【分类号】：R734.2

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