Article Abstract

Circulating tumor DNA detection in advanced non-small cell lung cancer patients

Authors: Zhi-Wei Guo, Min Li, Ji-Qiang Li, Chun-Lian Zhou, Xiang-Ming Zhai, Ming Li, Ying-Song Wu, Xue-Xi Yang


Background: Circulating tumor DNA (ctDNA) is of great value in characterizing gene mutations of non-small cell lung cancer (NSCLC) patients. However, the limited detection loci and high background errors of existing methods limit their applications. Therefore, novel methods are urgently needed for ctDNA mutation detection. In this study, we evaluated the potential of tag sequencing in characterizing the gene mutations of tumors. This is an amplicon-based method combined with molecular barcoding to reduce background errors.
Methods: We performed the tag sequencing technique to screen for NSCLC related gene mutations in plasma ctDNA and matched tissue DNA samples from 20 Chinese advanced NSCLC patients and the reference standard cfDNA set with four concentrations to assess its performance.
Results: The overall concordance of epidermal growth factor receptor (EGFR) mutations between tissue DNA and plasma ctDNA was 80%, and the sensitivity of EGFR mutations detected in plasma ctDNA was 67%. Moreover, our assay could accurately detect (100%) all of the six detected mutations in four concentrations of the reference standard cfDNA and their frequencies were all close to their actual frequencies.
Conclusions: These findings indicated that the tag sequencing method can effectively and stably detect gene mutations in ctDNA, and is suitable for clinical application. Tag sequencing accurately detected the ctDNA mutations, thereby highlighting the application of ctDNA in molecular diagnostics, prognosis prediction and targeted drug selection.


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