Table 7 Studies focus on the cfDNA plasma NGS for genotyping of newly diagnosed NSCLC
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 (ALK, RET, 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%) |  |  |