Table 2.
Targeted Genes | Technical Approach | Number of Plasma Samples | Performance | Reference | |||
---|---|---|---|---|---|---|---|
Principle | Method | Sensitivity (%) | Specificity (%) | Concordance (%) | |||
KRAS | PCR-based | COLD-PCR | 82 | 95.7 | 94.9 | 95.1 | [53] |
EGFR | PCR-based | PNA-LNA | 30 | 79.2 | 100 | ~80 | [56] |
EGFR | PCR-based | Therascreen | 652 | 65.7 | 99.8 | 94.3 | [96] |
EGFR | PCR-based | PNA-adapted method | 97 | 78.3 | 100 | ND | [97] |
EGFR | PCR-based | Cobas | 32 | 50 | 69.2 | 60 | [98] |
EGFR | PCR-based | Cobas | 238 | 75 | 96 | 88 | [99] |
EGFR | PCR-based | Cobas | 110 | [95] | |||
del19/L858R | 73.3 | 100 | 79.8 | ||||
T790M | 63.6 | 98.4 | 82.8 | ||||
EGFR | PCR-based | Cobas | 38 | [68] | |||
del19 | 86 | 100 | 89 | ||||
L858R | 90 | 100 | 97 | ||||
T790M | 41 | 100 | 57 | ||||
EGFR | PCR-based | Therascreen | 38 | [68] | |||
del19 | 82 | 100 | 87 | ||||
L858R | 78 | 100 | 95 | ||||
T790M | 29 | 100 | 48 | ||||
EGFR | PCR-based | PCR-restriction fragment length polymorphism | 111 | 35.6 | 95.5 | 71 | [100] |
KRAS | PCR-based | PCR-restriction fragment length polymorphism | 120 | 77 | 95 | 93 | [101] |
EML4-ALK rearrangement | PCR-based | Taqman probes | 32 | 21 | 100 | 66 | [102] |
KRAS | dPCR | Droplet-based | 64 | 78 | 100 | - | [14] |
EGFR | dPCR | Droplet-based | 73 | - | - | 74 | [103] |
EGFR | dPCR | Droplet-based | 46 | 66.7 | 100 | 84.8 | [104] |
EGFR | dPCR | Droplet-based | 38 | [68] | |||
L858R | 90 | 100 | 97 | ||||
T790M | 71 | 83 | 74 | ||||
EGFR | dPCR | Microfluidic-chamber-based | 35 | 92 | 100 | - | [105] |
EGFR | BEAMing | BEAMing | 44 | 72.7 | - | 73 | [41] |
EGFR | BEAMing | BEAMing | 216 | [67] | |||
del19 | 82.3 | 97.5 | - | ||||
L858R | 86.3 | 96.5 | - | ||||
T790M | 70.3 | 69 | - | ||||
EGFR | BEAMing | BEAMing | 38 | [68] | |||
del19 | 93 | 100 | 95 | ||||
L858R | 100 | 93 | 95 | ||||
T790M | 71 | 67 | 70 | ||||
EGFR, KRAS, BRAF | NGS-based | Deep sequencing | 21 | 100 | 100 | 100 | [43] |
EGFR, KRAS, BRAF, ERBB2, PIK3CA | NGS-based | Deep sequencing | 68 | 58 | 87 | 68 | [71] |
EGFR | NGS-based | Deep sequencing | 288 | [72] | |||
del19 | 50.9 | 98 | - | ||||
L858R | 51.9 | 94.1 | - | ||||
EGFR | NGS-based | Digital sequencing | 50 | - | - | 97.5 | [70] |
Panel | NGS-based | Digital sequencing | 165 | 85 | 99.6 | 99.3 | [49] |
EGFR | NGS-based | CAPP-Seq | 43 | 95 | 100 | 91 | [74] |
EGFR, fusion | NGS-based | CAPP-Seq | 13 | 85 | 96 | - | [46] |
EGFR | NGS-based | cSMART | 61 | 71.8 | 70 | 90.5 | [48] |
KRAS, EGFR | NGS-based | Capture | 31 | - | - | 71 | [94] |
EGFR, KRAS, PIK3CA, fusion | NGS-based | Capture | 39 | 68.5 | 100 | 78.2 | [106] |
EGFR, fusion, CNV | NGS-based | Bias-corrected | 48 | 77 | 100 | 86 | [50] |
EGFR | Mass spectrometry | MALDI-TOF | 31 | 80 | 52.4 | 61 | [86] |
EGFR | DHPLC | 230 | 81.8 | 89.5 | 87 | [87] | |
EGFR | Meta-analysis | 3110 | 63 | 95.9 | - | [107] |
PCR, polymerase chain reaction; COLD-PCR, coamplification at lower denaturation temperature PCR; PNA-LNA, peptide nuclei acid-locked nucleic acid; ND, not done; dPCR, digital PCR; BEAMing, beads, emulsion, amplification, and magnetics; NGS, next-generation sequencing; CAPP-Seq, cancer personalized profiling by deep Sequencing; cSMART, circulating single molecule amplification and re-sequencing technology; MALDI-TOF, matrix-assisted laser desorption/ionization-time of flight; DHPLC, Denaturing high performance liquid chromatography; CNV, copy number variation.