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用于检测非小细胞肺癌患者循环肿瘤DNA中表皮生长因子受体突变的超级扩增阻滞突变系统与液滴数字PCR的比较

Comparison of the SuperARMS and Droplet Digital PCR for Detecting EGFR Mutation in ctDNA From NSCLC Patients.

作者信息

Feng Wei-Neng, Gu Wei-Quan, Zhao Ning, Pan Ying-Ming, Luo Wei, Zhang Hua, Liang Jian-Miao, Yang Jie, Deng Yan-Ming

机构信息

Department of Head and Neck/Thoracic Medical Oncology, The First People's Hospital of Foshan, Foshan, Guangdong, PR China.

Department of Thoracic Surgery, The First People's Hospital of Foshan, Foshan, PR China.

出版信息

Transl Oncol. 2018 Apr;11(2):542-545. doi: 10.1016/j.tranon.2018.02.007. Epub 2018 Mar 8.

Abstract

BACKGROUND

Liquid biopsy is emerging as an important approach for tumor genotyping in non-small cell lung cancer, ddPCR and SuperARMS are both methods with high sensitivity and specificity for detecting EGFR mutation in plasma. We aimed to compare ddPCR and SuperARMS to detect plasma EGFR status in a cohort of advanced NSCLC patients.

METHOD

A total of 79 tumor tissues and paired plasma samples were collected. The EGFR mutation status in tissue was tested by ADx-ARMS, matched plasma was detected by ddPCR and SuperARMS, respectively.

RESULTS

The EGFR mutation rates were identified as 64.6% (tissue, ARMS), 55.7% (plasma, ddPCR), and 49.4% (plasma, Super ARMS), respectively. The sensitivity of ddPCR was similar with Super-ARMS in plasma EGFR detection (80.4% vs 76.5%), as well as the specificity (89.3% vs 100%). And the McNemar's test showed there was no significant difference (P = .125). The concordance rate between SuperARMS and ddPCR was 91.1%. A significant interaction was observed between cfDNA EGFR mutation status and EGFR-TKIs treatment tested by both methods.

CONCLUSION

Super-ARMS and ddPCR share the similar accuracy for EGFR mutation detection in plasma biopsy; both methods predicted well the efficacy of EGFR-TKIs by detecting plasma EGFR status.

摘要

背景

液体活检正成为非小细胞肺癌肿瘤基因分型的重要方法,数字滴液聚合酶链反应(ddPCR)和超级扩增阻滞突变系统(SuperARMS)都是检测血浆中表皮生长因子受体(EGFR)突变的高灵敏度和高特异性方法。我们旨在比较ddPCR和SuperARMS在一组晚期非小细胞肺癌(NSCLC)患者中检测血浆EGFR状态的情况。

方法

共收集79份肿瘤组织及配对的血浆样本。通过ADx-ARMS检测组织中的EGFR突变状态,分别用ddPCR和SuperARMS检测配对血浆中的EGFR突变状态。

结果

EGFR突变率在组织(ARMS法)中为64.6%,在血浆(ddPCR法)中为55.7%,在血浆(SuperARMS法)中为49.4%。ddPCR在血浆EGFR检测中的灵敏度与SuperARMS相似(80.4%对76.5%),特异性也相似(89.3%对100%)。McNemar检验显示无显著差异(P = 0.125)。SuperARMS与ddPCR的一致性率为91.1%。两种方法检测的循环游离DNA(cfDNA)EGFR突变状态与EGFR酪氨酸激酶抑制剂(EGFR-TKIs)治疗之间存在显著交互作用。

结论

SuperARMS和ddPCR在血浆活检中检测EGFR突变的准确性相似;两种方法通过检测血浆EGFR状态均能较好地预测EGFR-TKIs的疗效。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e57/5884193/60c5ebfbfbf6/gr1.jpg

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