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Comparative analysis of QS3D and droplet digital PCR for detection of plasma EGFR T790M mutation at disease progression

Comparative analysis of QS3D and droplet digital PCR for det...

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2021年中国肿瘤标志物学术大会暨第十五届肿瘤标志物青年科学家论坛

作者： Qiaomei Guo Xia Ahung Mingna Zhao Mengyan Wang Jiatao Lou Department of Laboratory Medicine Shanghai Chest Hospital

Objectives: Numerous studies have demonstrated the ability of QuantStudioTM 3 D(QS3 D) and droplet digital PCR(dPCR) platforms in the successful detection of EGFR mutations from plasma. However,no prospective data on quantitative comparative analysis of the two methods are available. Here we directly compared the performance of the two platforms in the detection of the EGFR T790 M mutation in cell-free DNA(cfDNA) samples from lung cancer ***: cfDNA was isolated from plasma samples of 72 non-small cell lung cancer patients who initially received tyrosine kinase inhibitor treatment and acquired drug resistance. Identical cfDNA samples were subjected to T790 M mutation analysis using QS3 D and droplet dPCR in ***: The T790 M mutation was detected in 15/72(20.8%) cfDNA samples by QS3 D dPCR and 21/72(29.2%) cfDNA samples by droplet dPCR. The overall concordance between the two methods was91.7%(66/72). The median allele frequency of the T790 M mutation detected by QS3 D dPCR and droplet dPCR was 2.01% and 2.62%, respectively. The partition number of QS3 D dPCR is much higher than that of droplet dPCR, while the mutation abundance detected by the two platforms is similar. Furthermore, a strong correlation was observed in allele frequencies and copy numbers between the two methods, with R2 of 0.98 and 0.97, ***: Our study demonstrated a high level of concordance between the QS3 D and droplet dPCR platforms for the detection and absolute quantification of the EGFR T790 M mutation in cfDNA.

关键词： cfDNA T790M digital PCR concordance mutation abundance

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