|
| Study team | Sample | Oncogene mutation | Sample size | Method | Conclusion |
|
|
Wang et al. | Plasma | EGFR | 68 (III/IV) | ARMS/Scorpion assay | Sensitivity (22.06%), specificity (96.97%), positive predictive value (88.24%), and negative predictive value (54.70%) [20] |
|
| Liu et al. | Plasma | EGFR | 86 (III/IV) | ARMS | Sensitivity (67.5%), specificity (100%), and concordance rate was 84.9% [21]. |
|
| Goto et al. | Plasma | EGFR | 86 (III/IV) | ARMS/Scorpion assay | Sensitivity (43.1%), specificity (100%), positive predictive value (100%), negative predictive value (54.7%), and concordance ratio (66.3%) [22] |
|
| Kimura et al. | Plasma | EGFR | 42 (advanced stage) | ARMS/Scorpion assay | Sensitivity (85.7%), specificity (94.2%), and concordance ratio (92.9%) [23] |
|
| Kimura et al. | Plasma | EGFR | 27 (III/IV) | ARMS/Scorpion | Detection rate 48.1% [24] |
|
| Yung et al. | Plasma | EGFR | 35 (III/IV) | Digital PCR | Sensitivity (92%) and specificity (100%) [28] |
|
| Brevet et al. | Plasma | EGFR | 34 (III/IV) | Mass spectrometry genotyping | Detection rate 61% [51] |
|
| Hu et al. | Plasma | EGFR | 24 (I/II/III/IV) | High-resolution melting analysis | Positive rate was 100% for patients in stages II–IV, 81.8% (9/11) for stage I. The sensitivity was 91.67% and specificity was 100% [52]. |
|
| Zhao et al. | Plasma | EGFR | 111 (I/II/III/IV) | Mutant-enriched PCR | Concordance ratio (71.2%), sensitivity (35.6%), and specificity (95.5%). Sensitivity varied according to the disease stage and pathological differentiation; early stage (10%) versus advanced stage (56%). Highly differentiated (20%) patients and moderately differentiated (19%) and poorly differentiated subgroup (77.8%) [31]. |
|
| Jiang et al. | Plasma | EGFR | 58 (III/IV) | Mutant-enriched PCR | Sensitivity (77.8%), specificity (100%), and concordance rate (93.1%), more sensitive than the nonenriched assay [32]. |
|
| Bai et al. | Plasma | EGFR | 230 (III/IV) | DHPLC | Sensitivity 81.8% and specificity 89.5% [57] |
|
| Kim et al. | Plasma | EGFR | 35 (III/IV) | PNA-mediated PCR | Concordance in the serum and tumor samples was 17% [42]. |
|
| Kim et al. | Plasma | EGFR | 57 (III/IV) | PNA–LNA PCR clamp | Concordance in the serum and tumor samples was 87.7% [43]. |
|
|
Xu et al. |
Plasma |
EGFR |
51 (III/IV) | ARMS/Scorpion assay | Sensitivity (50.0%) Specificity (100%) [25] |
| Mutant-enriched PCR | Sensitivity (25.0%) Specificity (96.2%) |
| DHPLC | Sensitivity (25.0%) Specificity (92.3%) |
| 60 (III/IV) | Direct sequencing versus Mutant-enriched PCR | Sensitivity 18.3% versus 55.0% [33] |
|
| Kuang et al. | Plasma | EGFR
−T790M | 54 (III/IV) | ARMS/Scorpion assay | Detected in 54% of patients with prior clinical response to TKI and 29% of prior stable disease [19] |
|
| Taniguchi et al. | Plasma | EGFR
−T790M | 44 (III/IV) | BEAMing | 82.6% detection rate in patient who developed PD after EGFR TKI and 43.5% detection rate in patients were never treated with EGFR TKI [48] |
|
| Sakai et al. | Plasma | EGFR
−T790M | 75 (III/IV) | Mass spectrometry genotyping | 28% detection rate in patient who developed PD after EGFR TKI [50]. |
|
| Kukita et al. | Plasma | EGFR | 144 (III/IV) | Next-generation sequencers: Ion Torrent PGM | 72.7% detection rate in exon 19 deletion, 78.2% detection rate in L858R or L861Q [66] |
|
| Couraud et al. | Plasma | EGFR (exons 18, 19, 20, and 21) | 68 (I/II/III/IV) | Next-generation sequencers: Ion Torrent PGM | Sensitivity ranged from 55% (EGFR exon 19) to 100% (EGFR exon 18) Considering all amplicons, the sensitivity was 58% and the concordance rate was 68% [67]. |
|
| Wei et al. | Saliva | EGFR | 40 (III/IV) | EFIRM | Exon 19 Del (AUCs = 0.94, 95% CI, 0.82–1) and L858R (AUCs = 0.96, 95% CI, 0.90–1) [80] |
|
