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Table 7 Studies focus on the cfDNA plasma NGS for genotyping of newly diagnosed NSCLC

From: The value of cell-free circulating tumour DNA profiling in advanced non-small cell lung cancer (NSCLC) management

Study Method Sample size Sensitivity Specificity Concordance tissue/liquid biopsy %
Conraud et al. [114] NGS amplicon-based (ion Torrent PGM) N = 68 Del19: 55%
Exon 18 = 100%
All = 58%
  68%
Thompson et al. [115] NGS
70 genes Guardant360 panel
Illumina Hi-Seq 2500
N = 102 84% (50 drivers, 12 resistance and 22 in additional genes) NA 60%
(79% for EGFR mutations)
Leighl et al. [99] NGS
Guardant360CDX
N = 282 80% for any guideline-recommended biomarker   For (EGFR, ALK, ROS1, BRAF) concordance was > 98.2%
Aggarwal et al. [120] NGS
Guardant360CDX
N = 323    90%
Li et al. [117] NGS
hybrid capture panel covering 37 lung cancer-related genes
N = 127 75% for de novo plasma detection of known oncogenic drivers 100% NA
Fernandes et al. [46] NGS amplicon-based N = 115 81% 95% 76%
Papadopoulou et al. [150] NGS amplicon-based N = 121 (36 with matched plasma and tissue) 49% at least one mutation detected
89% sensitivity for the matched population
  86%
Mack et al. [121] NGS
Guardant 360
N = 8388 Somatic alterations were detected in 86% of samples. Activating alterations in actionable oncogenes were identified in 48% of patients, EGFR (26.4%), MET (6.1%), and BRAF (2.8%) alterations and fusions (ALKRET, and ROS1) in 2.3%   
Schrock et al. [119] NGS
hybrid capture panel covering 62 lung cancer-related genes
N = 1552 Genomic alterations were detected in 86% of samples. Most frequent were: (TP53) (59%), EGFR (25%), and KRAS (17%)