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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.
Ion Torrent high-throughput sequencing platform by sequencing the cancer patient’s genome to identify the site of disease-causing mutations and select the corresponding targeted drugs to more effectively treat and reduce side effects.Iron Torrent platform was used to detect a total of 55 non-small Formaldehyde-fixed paraffin-embedded samples (FFPE samples) of lung cancer tissues were analyzed and the pathogenic mutation sites were identified. Among 30 (54.5%) samples, there were mutations of the tumor suppressor gene TP53. 36 species, the highest mutation frequency of a gene.The next mutation frequency of EGFR gene was detected in 17 (30.9%) patients a total of 8 kinds of mutation types.The third highest mutation frequency is ERBB4 (HER4, and EGFR belong to the same HER (14.5%), KRAS (6 cases, 10.9%), PIK3CA (6 cases, 10.9%) were found in 14 (25.5%) patients.Moreover, 5 cases, 9.1%), etc. The present study shows that pathogenic mutations can be found by extracting DNA from FFPE samples of lung cancer patients and sequencing using the Ion Torrent platform, which can be used to guide doctors in better targeted drug therapy.