title: Detection of circulating tumor DNA in patients with advanced non-small cell lung cancer.
abstract: 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.
authors: Department of Medical Oncology, The First Affiliated Hospital of Xi'an Jiaotong University, Shanxi, China.
authors: Yu
authors: Y
authors: Yao
authors: Department 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.
authors: Jinghao
authors: J
authors: Liu
authors: Novogene Bioinformatics Institute, Beijing, China.
authors: Lei
authors: L
authors: Li
authors: Novogene Bioinformatics Institute, Beijing, China.
authors: Yuan
authors: Y
authors: Yuan
authors: Department of Medical Oncology, The First Affiliated Hospital of Xi'an Jiaotong University, Shanxi, China.
authors: Kejun
authors: K
authors: Nan
authors: Novogene Bioinformatics Institute, Beijing, China.
authors: Xin
authors: X
authors: Wu
authors: Novogene Bioinformatics Institute, Beijing, China.
authors: Zhenyu
authors: Z
authors: Zhang
authors: Department 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.
authors: Yi
authors: Y
authors: Wu
authors: Department 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.
authors: Xin
authors: X
authors: Li
authors: Novogene Bioinformatics Institute, Beijing, China.
authors: Jiaqi
authors: J
authors: Zhu
authors: Novogene Bioinformatics Institute, Beijing, China.
authors: Xuehong
authors: X
authors: Meng
authors: Novogene Bioinformatics Institute, Beijing, China.
authors: Longgang
authors: L
authors: Wei
authors: Department 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.
authors: Jun
authors: J
authors: Chen
authors: Novogene Bioinformatics Institute, Beijing, China.
authors: Zhi
authors: Z
authors: Jiang
mesh_terms: D000328:Adult; D000368:Aged; D002289:Carcinoma, Non-Small-Cell Lung / Q000097:blood* / Q000175:diagnosis* / Q000235:genetics; D016022:Case-Control Studies; D000074141:Circulating Tumor DNA / Q000032:analysis* / Q000097:blood / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D054643:INDEL Mutation; D008175:Lung Neoplasms / Q000097:blood* / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011237:Predictive Value of Tests
chemical_list: D000074141:Circulating Tumor DNA
keywords: EGFR; NSCLC; circulating tumor DNA; gene fusion; targeted sequencing