High⁃throughput sequencing of driver gene mutations in non⁃small cell lung cancer
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    Abstract:

    Objective:This study aims to investigate the value of detecting driver gene mutations in non-small cell lung cancer(NSCLC) patients using next-generation sequencing(NGS) technology. Methods:Somatic mutations in 150 NSCLC patients including EGFR,KRAS,BRAF,NRAS,Her-2 and PIK3CA were detected by Ion torrent personal genome machine(PGM). Sanger sequencing and ddPCR was used to test and verify the results of EGFR gene mutations. Results:According to NGS results,mutations were detected in EGFR(51.33%,77/150),KRAS(7.33%,11/150),BRAF(1.33%,2/150),NRAS(1.33%,2/150),Her-2(2%,3/150)and PIK3CA(4.67%,7/150). There were 57 samples without any somatic mutations in all genes,84 samples had one or more mutations in single gene,while 9 samples harboured mutations in two or more genes. The overall detection rate of EGFR mutation by NGS and Sanger sequencing was 51.33%(77/150)and 38.67%(58/150). The difference between the two methods was statistically significant(χ2=4.862,P=0.027). Compared to Sanger sequencing,the sensitivity and specificity of NGS assays was 98.28% and 78.26%,respectively. The overall detection rate of EGFR mutation by NGS and ddPCR was 51.33%(77/150)and 50%(75/150). There was no significant difference between the two methods(χ2=0.053,P=0.818). Compared to ddPCR,the positive concordance rate was 82.67%,the negative consistency rate was 80%,and the total concordance rate was 81.33%. Conclusion:Next-generation sequencing technology is more suitable for the diagnosis and treatment of NSCLC. Sanger sequencing and ddPCR can be useful supplements.

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严晓娣,史国振,毛旭华.高通量测序技术检测非小细胞肺癌相关驱动基因的突变[J].南京医科大学学报(自然科学版英文版),2021,(2):193-197.

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  • Received:July 08,2020
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  • Online: March 10,2021
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