title: Circulating tumor DNA identified by targeted sequencing in advanced-stage non-small cell lung cancer patients.
abstract: Non-small cell lung cancers (NSCLC) have unique mutation patterns, and some of these mutations may be used to predict prognosis or guide patient treatment. Mutation profiling before and during treatment often requires repeated tumor biopsies, which is not always possible. Recently, cell-free, circulating tumor DNA (ctDNA) isolated from blood plasma has been shown to contain genetic mutations representative of those found in the primary tumor tissue DNA (tDNA), and these samples can readily be obtained using non-invasive techniques. However, there are still no standardized methods to identify mutations in ctDNA. In the current study, we used a targeted sequencing approach with a semi-conductor based next-generation sequencing (NGS) platform to identify gene mutations in matched tDNA and ctDNA samples from 42 advanced-stage NSCLC patients from China. We identified driver mutations in matched tDNA and ctDNA in EGFR, KRAS, PIK3CA, and TP53, with an overall concordance of 76%. In conclusion, targeted sequencing of plasma ctDNA may be a feasible option for clinical monitoring of NSCLC in the near future.
authors.affiliation: Department of Lung Cancer Surgery, Tianjin Medical University General Hospital, Tianjin, China.
authors.forename: Song
authors.initials: S
authors.lastname: Xu
authors.affiliation: San Valley Biotechnology Incorporated, Beijing, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Lou
authors.affiliation: Department of Lung Cancer Surgery, Tianjin Medical University General Hospital, Tianjin, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Department of Thoracic Surgery, Tianjin Chest Hospital, Tianjin, China.
authors.forename: Da-Qiang
authors.initials: DQ
authors.lastname: Sun
authors.affiliation: San Valley Biotechnology Incorporated, Beijing, China.
authors.forename: Jing-Bo
authors.initials: JB
authors.lastname: Zhang
authors.affiliation: San Valley Biotechnology Incorporated, Beijing, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Chen
authors.affiliation: San Valley Biotechnology Incorporated, Beijing, China.
authors.forename: Hua
authors.initials: H
authors.lastname: Ye
authors.affiliation: Department of Lung Cancer Surgery, Tianjin Medical University General Hospital, Tianjin, China.
authors.forename: Jing-Hao
authors.initials: JH
authors.lastname: Liu
authors.affiliation: Department of Lung Cancer Surgery, Tianjin Medical University General Hospital, Tianjin, China.
authors.forename: Sen
authors.initials: S
authors.lastname: Wei
authors.affiliation: San Valley Biotechnology Incorporated, Beijing, China.
authors.forename: Ming-Yu
authors.initials: MY
authors.lastname: Zhao
authors.affiliation: San Valley Biotechnology Incorporated, Beijing, China.
authors.forename: Wen-Jun
authors.initials: WJ
authors.lastname: Wu
authors.affiliation: San Valley Biotechnology Incorporated, Beijing, China.
authors.forename: Xue-Xia
authors.initials: XX
authors.lastname: Su
authors.affiliation: San Valley Biotechnology Incorporated, Beijing, China.
authors.forename: Rong
authors.initials: R
authors.lastname: Shi
authors.affiliation: Norris Comprehensive Cancer Center, Department of Molecular Microbiology and Immunology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
authors.forename: Lindsey
authors.initials: L
authors.lastname: Jones
authors.affiliation: Norris Comprehensive Cancer Center, Department of Molecular Microbiology and Immunology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
authors.forename: Xue F
authors.initials: XF
authors.lastname: Huang
authors.affiliation: Norris Comprehensive Cancer Center, Department of Molecular Microbiology and Immunology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. Electronic address: siyichen@usc.edu.
authors.forename: Si-Yi
authors.initials: SY
authors.lastname: Chen
authors.affiliation: Department of Lung Cancer Surgery, Tianjin Medical University General Hospital, Tianjin, China. Electronic address: huntercj2004@yahoo.com.
authors.forename: Jun
authors.initials: J
authors.lastname: Chen
mesh_terms: D000328:Adult; D000368:Aged; D002289:Carcinoma, Non-Small-Cell Lung / Q000235:genetics* / Q000473:pathology; D004273:DNA, Neoplasm / Q000097:blood*; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009367:Neoplasm Staging
chemical_list: D004273:DNA, Neoplasm
keywords: Circulating tumor DNA; Ion PGM/AmpliSeq cancer panel; NSCLC; Next generation sequencing; Targeted sequencing