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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