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Table 4 NGS-based studies analysing cfDNA for EGFR mutation detection

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

Reference Method of detection Study type/ Sample size Sensitivity/ PPA Specificity/ NPA Concordance/ OPA between tissue and liquid biopsy
Kukita Y et al. [58] NGS amplicon-based (Ion Torrent PGM®) Retrospective n = 155 (144 plasma and 11 other fluids) Del 19: 73%
L858R or L861Q: 78%
n.r n.r
Prospective n = 22 78% 92% 86%
Reckamp et al. [59] NGS Amplicon -based
(Illumina MiSeq platform®)
Retrospective
(TIGER-X study)
N = 60
(urine and plasma)
T790M 93%
L858R 100%
Del19 87%
(urine: T790M 72%; L858R 75%
Del19 67%)
T790M 94%
L858R 100%
Del19 96%
(urine: T790M 96%; L858R 100%
Del19 94%)
n.r
Papadimitrakopoulou V et al. [60] Cobas® EGFR Mutation Test v2; Retrospective analysis from AURA 3 study
N = 562
T790M: 51%
L858R: 68%
Del19: 82%
T790M: 77%
L858R: 99%
Del 19: 99%
T790M: 61% L858R: 88%
Del 19: 89%
ddPCR (Biodesix®) T790M: 58%
L858R: 70%
Del19: 73%
T790M: NA
L858R: 98%
Del 19: 100%
n.r
NGS (Guardant360®, Guardant Health) T790M: 66%
L858R: 63%
Del19: 79%
T790M: NA
L858R: 98%
Del 19: 99%
n.r
Schwartzberg et al. [61] NGS HiSeq® 2500 (Illumina) Prospective
N = 117
94% 100% 94%
  1. PPA Positive percent agreement, NPA Negative percent agreement, OPA overall percent agreement. n.r. not reported