Detection of<em>EGFR</em>gene mutation by BEAMing ddPCR and Super ARMS in plasma ctDNA of non-small cell lung cancer patients with the treatment of EGFR tyrosine kinase inhibitors

季　刚; 朱晓丽; 张　玲; 吴丽静; 李　媛; 常建华; 周晓燕

doi:10.19401/j.cnki.1007-3639.2020.05.003

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Detection ofEGFRgene mutation by BEAMing ddPCR and Super ARMS in plasma ctDNA of non-small cell lung cancer patients with the treatment of EGFR tyrosine kinase inhibitors

更新时间：2026-01-27

- Detection ofEGFRgene mutation by BEAMing ddPCR and Super ARMS in plasma ctDNA of non-small cell lung cancer patients with the treatment of EGFR tyrosine kinase inhibitors
- China Oncology Vol. 30, Issue 5, Pages: 335-339(2020)
- 作者机构：
  
  复旦大学附属肿瘤医院病理科，复旦大学上海医学院肿瘤学系，复旦大学病理研究所,上海,200032
- 作者简介：
- 基金信息：
- DOI：10.19401/j.cnki.1007-3639.2020.05.003
  CLC： R734.2
- Published Online：05 June 2020，
  
  Published：05 June 2020
- 稿件说明：
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季　刚, 朱晓丽, 张　玲, 吴丽静, 李　媛, 常建华, 周晓燕. BEAMing ddPCR与Super ARMS检测EGFR酪氨酸激酶抑制剂治疗后非小细胞肺癌患者循环肿瘤DNA

季　刚, 朱晓丽, 张　玲, et al. Detection ofEGFRgene mutation by BEAMing ddPCR and Super ARMS in plasma ctDNA of non-small cell lung cancer patients with the treatment of EGFR tyrosine kinase inhibitors[J]. China Oncology, 2020, 30(5): 335-339.
季　刚, 朱晓丽, 张　玲, 吴丽静, 李　媛, 常建华, 周晓燕. BEAMing ddPCR与Super ARMS检测EGFR酪氨酸激酶抑制剂治疗后非小细胞肺癌患者循环肿瘤DNA DOI： 10.19401/j.cnki.1007-3639.2020.05.003.

季　刚, 朱晓丽, 张　玲, et al. Detection ofEGFRgene mutation by BEAMing ddPCR and Super ARMS in plasma ctDNA of non-small cell lung cancer patients with the treatment of EGFR tyrosine kinase inhibitors[J]. China Oncology, 2020, 30(5): 335-339. DOI： 10.19401/j.cnki.1007-3639.2020.05.003.

摘要

背景与目的：BEAMing微滴数字PCR（droplet digital PCR，ddPCR）被认为是灵敏度极高的基因突变检测方法，探讨该方法和扩增阻碍突变系统（Super amplification refractory mutation system，Super ARMS）检测表皮生长因子受体（epidermal growth factor receptor，EGFR）酪氨酸激酶抑制剂（tyrosine kinase inhibitor，TKI）治疗非小细胞肺癌（non-small cell lung cancer，NSCLC）患者后循环肿瘤DNA（circulating tumor DNA，ctDNA）EGFR基因突变的灵敏度差异，进而为指导临床ctDNA检测方法的选择提供更多参考。方法：收集复旦大学附属肿瘤医院2017—2018年接受过EGFRTKI治疗的NSCLC患者血浆33例及国家病理质控评价中心（Pathology Quality Control Center，PQCC）模拟血浆10例，采用凯杰血浆游离核酸纯化试剂盒进行循环游离DNA（circulating free DNA，cfDNA）提取，分别用ddPCR和Super ARMS方法进行EGFR基因19 del、T790M和L858R突变检测，两种结果进行对比和统计学分析。结果：33例临床样本应用两种方法检测19 del、T790M和L858R突变，阳性率分别为27.3% vs 27.3%（P=1.00）、42.4% vs 27.3%（P=0.23）和27.3% vs 27.3%（P=1.00）。10例PQCC样本结果与标准结果相比，ddPCR检测T790M符合率显著高于Super ARMS（P=0.01）。ddPCR和Super ARMS检测T790M的样本突变丰度范围分别为0.04%~7.66%和0.05%~7.66%。11例T790M ddPCR（+）/Super ARMS（-）的平均突变丰度为0.19%（0.04%~0.76%），与10例Super ARMS（+）平均突变丰度［1.73%（0.05%~7.66%）］差异有统计学意义（P=0.03）。EGFR TKI耐药突变T790M突变丰度在0.01%~0.20%、0.20%~1.00%和1.00%区间的分布分别为42.9%、14.2%和42.9%。结论：BEAMing ddPCR法较Super ARMS法具有更高的灵敏度，可检出更多T790M耐药患者，可能为更多患者选择最有效的靶向治疗方案提供参考。

Abstract

Background and purpose: BEAMing droplet digital PCR (ddPCR) is considered to be a highly sensitive method for gene mutation detection. We aimed to explore the difference in sensitivity between BEAMing ddPCR and super amplification refractory mutation system (Super ARMS) in detecting circulating tumor DNA (ctDNA) of epidermal growth factor receptor (EGFR) gene mutation in non-small cell lung cancer (NSCLC) patients with EGFR tyrosine kinase inhibitor (TKI) treatment

and to provide guidance on selecting methods for clinical application. Methods: Thirty-three plasma samples were collected from NSCLC patients who had received EGFR TKI treatment at Fudan University Shanghai Cancer Center from 2017 to 2018. A total of 10 artificial plasma samples were received from Department of National Pathology Quality Control Center (PQCC). Extracted circulating free DNA (cfDNA) was analyzed by ddPCR and Super ARMS. Results: The positive rates of ctDNA EGFR gene mutations of 19 del

T790M and L858R detected by ddPCR and Super ARMS in 33 NSCLC patients were 27.3% vs 27.3% (P=1.00)

42.4% vs 27.3% (P=0.23) and 27.3% vs 27.3% (P=1.00)

respectively. The results of 10 PQCC samples showed that ddPCR was more accurate than Super ARMS in detecting EGFR T790M (P=0.01). The detected mutant abundance ranged from 0.04% and 0.05% to 7.66% for ddPCR and Super ARMS respectively. The average mutant abundance of 11 cases of T790M detected by ddPCR only was 0.19%

which was significantly different from that of 10 T790M positive samples detected by Super ARMS (1.73%

P=0.03). The distribution of T790M mutant abundance in the range of 0.01%-0.20%

0.20%-1.00% and 1% was 42.9%

14.2% and 42.9%

respectively. Conclusion: BEAMing ddPCR is more sensitive than Super ARMS in detecting lower frequency EGFR T790M gene mutation in NSCLC patients with EGFR TKI treatment.

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复旦大学附属中山医院检验科

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Detection ofEGFRgene mutation by BEAMing ddPCR and Super ARMS in plasma ctDNA of non-small cell lung cancer patients with the treatment of EGFR tyrosine kinase inhibitors

DOI：10.19401/j.cnki.1007-3639.2020.05.003

摘要

Abstract

关键词

Keywords

references