Next-generation sequencing of circulating tumor DNA for detection of gene mutations in lung cancer: implications for precision treatment

Lai J, Du B, Wang Y, Wu R, Yu Z
2018 OncoTargets and Therapy  
Jinhuo Lai,1 Bin Du,1 Yao Wang,1 Riping Wu,1 Zongyang Yu2 1Department of Oncology, Fujian Medical University Union Hospital, Fuzhou 350001, Fujian Province, People's Republic of China; 2Department of Medical Oncology, Fuzhou General Hospital of PLA, Fuzhou 350025, Fujian Province, People's Republic of China Background: Lung cancer remains a major global health problem, which causes millions of deaths annually. Because the prognosis is mainly determined by the stage of lung cancer, precise early
more » ... diagnosis is of great significance to improve the survival and prognosis. Circulating tumor DNA (ctDNA) has been recognized as a sensitive and specific biomarker for the detection of early- and late-stage lung cancer, and next-generation sequencing (NGS) of ctDNA has been accepted as a noninvasive tool for early identification and monitoring of cancer mutations. This study aimed to assess the value of NGS-based ctDNA analysis in detecting gene mutations in lung cancer patients.Methods: A total of 101 subjects with pathological diagnosis of lung cancer were enrolled, and blood samples were collected. ctDNA samples were prepared and subjected to NGS assays.Results: There were 31 cases harboring 40 gene mutations, and EGFR was the most frequently mutated gene (27.72%). In addition, there were seven cases with double mutations and one case with triple mutations, with EGFR p.T790M mutation exhibiting the highest frequency.Conclusion: Our findings demonstrate that NGS of ctDNA is effective in detecting gene mutations in lung cancer patients, and may be used as a liquid biopsy for lung cancer, which facilitates the development of precision treatment regimens for lung cancer. Keywords: lung cancer, next-generation sequencing, circulating tumor DNA, ctDNA, gene mutation
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