| 巴雅力格,孙岩岩,李卉.二代测序技术检测内蒙古地区晚期肺腺癌病人血浆循环肿瘤 DNA中表皮生长因子受体突变状态的应用价值[J].安徽医药,2022,26(3):485-488. |
| 二代测序技术检测内蒙古地区晚期肺腺癌病人血浆循环肿瘤 DNA中表皮生长因子受体突变状态的应用价值 |
| Application value of NGS for the detectation of EGFR mutation in plasma ctDNA of patients with advanced lung adenocarcinoma in Inner Mongolia |
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| DOI：10.3969/j.issn.1009-6469.2022.03.014 |
| 中文关键词: 肺肿瘤 高通量核苷酸序列分析， 循环肿瘤 DNA 表皮生长因子受体 |
| 英文关键词: Lung neoplasms High-throughput nucleotide sequencing Circulating tumor DNA Epidermal growth factor receptor |
| 基金项目:内蒙古自治区科技计划项目( 201702118) |
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| 中文摘要: |
| 目的探讨二代测序技术检测血浆循环肿瘤 DNA(ctDNA)中表皮生长因子受体( EGFR)突变状态在内蒙古地区晚期肺腺癌病人中的应用价值。方法分析内蒙古自治区人民医院 2016年 11月至 2017年 12月符合条件的 50例晚期肺腺癌病人，采用突变阻滞扩增系统 PCR(ARMS-PCR)法检测组织样本、二代测序技术检测血浆 ctDNA中 EGFR突变情况，比较两种检测方法的一致性，并以组织检测作为金标准，评价二代测序技术的有效性。结果以组织检测结果为金标准，血浆 ctDNA中 EGFR突变检测的灵敏度为 96%，特异度为 68%，一致率为 84%。结论基于二代测序的血浆 EGFR突变检测与组织样本检测具有较好的一致性(Kappa=0.66，P=0.001)可以通过二代测序技术来反映晚期肺腺癌病人的 EGFR突变情况。 |
| 英文摘要: |
| Objective To explore the application value of next generation sequencing (NGS) for the detection of epidermal growthfactor receptor (EGFR) mutation in plasma circulating tumor DNA (ctDNA) of patients with advanced lung adenocarcinoma in InnerMongolia.Methods Fifty eligible patients with advanced lung adenocarcinoma treated in Inner Mongolia Autonomous Region People′s Hospital from November 2016 to December 2017 were included. Amplification refractory mutation system PCR (ARMs-PCR) method was used to detect the paraffin-embedded tissue and NGS technology was used to detect the EGFR mutation in plasma ctDNA.The consistency of the two detection methods was studied, and the effectiveness of NGS technology was evaluated with tissue detectionas the gold standard.Results Taking tissue test results as the gold standard, the sensitivity of EGFR mutation detection in plasma ctD?NA was 96%, the specificity was 68%, and the consistency rate was 84%.Conclusion NGS-based plasma EGFR mutation detection has good consistency with tissue sample detection (Kappa = 0.66, P=0.001), and thus NGS technology can be used to reflect the EGFR mutation of patients with advanced lung adenocarcinoma. |
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