Fig. 2

Mutation analysis of matched tumor tissue and cfDNA from NSCLC patients by parallel NGS panel testing. a Mutational landscape of matched cfDNA and FFPE, FF tissue DNA from NSCLC patients. Each column represents 1 patient. Only alterations in overlapping base positions of L103 and L82 gene panels were included. For Patients 1–21, matched cfDNA, FFPE and FF tumor tissue DNA were sequenced. For Patients 22–56, matched cfDNA and FFPE tumor tissue DNA were sequenced. Number in the square indicates the number of different mutations in each gene. b-h Whole blood was collected from NSCLC patients1–21 in EDTA tubes and processed within 2 h post venesection. Frequency of cases with detectable mutations in cfDNA in early-stage NSCLC (stages I and II) and advanced-stage (stages III and IV) NSCLC (b), positive concordance rate for genomic alterations in plasma and FFPE tumor tissue (c), overall concordance rate for genomic alterations in plasma and FFPE tumor tissue (d), frequency of specific mutations in tumor tissue biopsies (including both FFPE and FF) and plasma cfDNA samples (e), overall concordance of genomic alterations between plasma and FFPE tumor tissue in adenocarcinoma (AC) and squamous cell carcinoma (SCC) (f), specific variants in matched FFPE and FF biopsies (g) and overall concordance of genomic alterations between matched tumor tissue sample (FFPE or FF) and cfDNA (h). i Whole blood was collected from three groups of early stage NSCLC patients (patients 1–11, 22–40 and 42–56) in EDTA tubes, stored at RT and processed within 2 h, 4–6 h and 8–12 h post venesection, respectively. After cfDNA was isolated from plasma, the cfDNA concentration was determined by Qubit 2.0. Means for each group are represented by the black bars in the columns analyzed. The concentrations of cfDNA in plasma samples processed within 2 h, 4–6 h and 8–12 h are 34.27 ng/mL (95% CI, 10.12–58.43), 7.64 ng/mL (95% CI, 5.43–9.85) and 13.02 ng/mL (95% CI, 9.3–16.73), respectively