title: Circulating cell-free DNA has a high degree of specificity to detect exon 19 deletions and the single-point substitution mutation L858R in non-small cell lung cancer.
abstract: Detection of an epidermal growth factor receptor (EGFR) mutation in circulating cell-free DNA (cfDNA) is a noninvasive method to collect genetic information to guide treatment of lung cancer with tyrosine-kinase inhibitors (TKIs). However, the association between cfDNA and detection of EGFR mutations in tumor tissue remains unclear. Here, a meta-analysis was performed to determine whether cfDNA could serve as a substitute for tissue specimens for the detection of EGFR mutations. The pooled sensitivity, specificity, and areas under the curve of cfDNA were 0.60, 0.94, and 0.9208 for the detection of EGFR mutations, 0.64, 0.99, and 0.9583 for detection of the exon 19 deletion, and 0.57, 0.99, and 0.9605 for the detection of the L858R mutation, respectively. Our results showed that cfDNA has a high degree of specificity to detect exon 19 deletions and L858R mutation. Due to its high specificity and noninvasive characteristics, cfDNA analysis presents a promising method to screen for mutations in NSCLC and predict patient response to EGFR-TKI treatment, dynamically assess treatment outcome, and facilitate early detection of resistance mutations.
authors.affiliation: Department of Respiratory Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei, P.R. China.|Institute of Respiratory Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei, P.R. China.
authors.forename: Xin
authors.initials: X
authors.lastname: Qian
authors.affiliation: Department of Orthopedic, Lanzhou University First Hospital, Lanzhou, 730000, Gansu, P.R. China.
authors.forename: Jia
authors.initials: J
authors.lastname: Liu
authors.affiliation: Department of Emergency Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei, P.R. China.
authors.forename: Yuhui
authors.initials: Y
authors.lastname: Sun
authors.affiliation: Department of Respiratory Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei, P.R. China.|Institute of Respiratory Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei, P.R. China.
authors.forename: Meifang
authors.initials: M
authors.lastname: Wang
authors.affiliation: Department of Respiratory Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei, P.R. China.|Institute of Respiratory Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei, P.R. China.
authors.forename: Huaiding
authors.initials: H
authors.lastname: Lei
authors.affiliation: Department of Respiratory Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei, P.R. China.|Institute of Respiratory Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei, P.R. China.
authors.forename: Guoshi
authors.initials: G
authors.lastname: Luo
authors.affiliation: Department of Respiratory Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei, P.R. China.|Institute of Respiratory Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei, P.R. China.
authors.forename: Xianjun
authors.initials: X
authors.lastname: Liu
authors.affiliation: Department of Respiratory Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei, P.R. China.|Institute of Respiratory Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei, P.R. China.
authors.forename: Chang
authors.initials: C
authors.lastname: Xiong
authors.affiliation: Department of Respiratory Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei, P.R. China.|Institute of Respiratory Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei, P.R. China.
authors.forename: Dan
authors.initials: D
authors.lastname: Liu
authors.affiliation: Department of Respiratory Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei, P.R. China.|Institute of Respiratory Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei, P.R. China.
authors.forename: Jie
authors.initials: J
authors.lastname: Liu
authors.affiliation: Department of Respiratory Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei, P.R. China.|Institute of Respiratory Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, 442000, Hubei, P.R. China.
authors.forename: Yijun
authors.initials: Y
authors.lastname: Tang
mesh_terms: D019540:Area Under Curve; D002289:Carcinoma, Non-Small-Cell Lung / Q000235:genetics*; D000074141:Circulating Tumor DNA / Q000235:genetics*; D066246:ErbB Receptors / Q000235:genetics*; D005091:Exons / Q000235:genetics; D018773:Genes, erbB-1 / Q000235:genetics; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics*; D017354:Point Mutation; D012372:ROC Curve; D017384:Sequence Deletion
chemical_list: D000074141:Circulating Tumor DNA; C512478:EGFR protein, human; D066246:ErbB Receptors
keywords: circulating cell-free DNA; epidermal growth factor receptor; non-small cell lung cancer; sensitivity; specificity