Research Papers:

Detection of circulating tumor DNA in patients with advanced non-small cell lung cancer

Yu Yao, Jinghao Liu, Lei Li, Yuan Yuan, Kejun Nan, Xin Wu, Zhenyu Zhang, Yi Wu, Xin Li, Jiaqi Zhu, Xuehong Meng, Longgang Wei, Jun Chen and Zhi Jiang _

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Oncotarget. 2017; 8:2130-2140. https://doi.org/10.18632/oncotarget.12883

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Yu Yao1,*, Jinghao Liu2,*, Lei Li3,*, Yuan Yuan3,*, Kejun Nan1, Xin Wu3, Zhenyu Zhang3, Yi Wu2, Xin Li2, Jiaqi Zhu3, Xuehong Meng3, Longgang Wei3, Jun Chen2, Zhi Jiang3

1Department of Medical Oncology, The First Affiliated Hospital of Xi’an Jiaotong University, Shanxi, China

2Department of Lung Cancer Surgery, Tianjin Key Laboratory of Lung Cancer Metastasis and Tumor Microenvironment, Tianjin Lung Cancer Institute, Tianjin Medical University General Hospital, Tianjin, China

3Novogene Bioinformatics Institute, Beijing, China

*These authors contributed equally to this work

Correspondence to:

Jun Chen, email: [email protected]

Zhi Jiang, email: [email protected]

Keywords: circulating tumor DNA, NSCLC, targeted sequencing, EGFR, gene fusion

Received: May 04, 2016     Accepted: October 19, 2016     Published: October 25, 2016


Circulating tumor DNA (ctDNA) isolated from plasma has great potential in identification of gene mutation in non-small cell lung cancers (NSCLC), which is a non-invasive technique and can avoid the inherent shortcomings of tissue biopsy. However the ability of NGS to detect gene mutation in plasma ctDNA has not been broadly explored. To assess the diagnostic ability of ctDNA for the total mutation profile, including single nucleotide variations (SNVs), insertions and deletions (indels) and gene rearrangements, we performed a targeted DNA sequencing approach to screen NSCLC related driver gene mutations in both tissue biopsies and matched blood plasma samples from 39 advanced NSCLC patients from China. The sensitivity of EGFR, KRAS, PIK3CA mutations and gene rearrangements detected in plasma ctDNA was 70.6%, 75%, 50% and 60%, respectively and the overall concordance of gene mutations between tissue DNA and plasma ctDNA was 78.21%. Our data provide evidence that ctDNA in plasma is likely to become an alternative source for cancer-related mutations profiling in advanced NSCLC patients and targeted sequencing of ctDNA offers a promising perspective on precise diagnostics and may serve as a feasible option for clinical monitoring of NSCLC patients.

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