Table 1 Sensitivity of detection of circulating tumor DNA (ctDNA)
Test | Detection | Analytic limitation | EGFR T790M mutation | Test Characteristics | Reference | |
|---|---|---|---|---|---|---|
Sensitivity | Specificity | |||||
MS | Known SNVs | 1–10% | 38.9% for del19/L858R | 84.6% for del19/L858R | Quantitative | [122] |
dHLPC | Known SNVs | 1–5% | 81.8% for sensitizing mutation | 89.5% for sensitizing mutation | Provided information only of presence/absence of known mutations | |
Cobas | Known SNVs | 1–3% | 61.4% (76.7% for del19/L858R) | 78.6% (98.2% del19/L858R) | Semi-quantitative The only FDA approved ctDNA assay for detection of EGFR mutations | |
Scorpion-ARMS | Known SNVs | 1–3% | 61.8%–85.7% for del19/L858R | 94.3–100% for del19/L858R | Semi-quantitative | |
HRMA | Known SNVs, indels, | 0.1–10% | 91.67% for sensitizing mutation | 100% for sensitizing mutation | Rapid EGFR mutation screening | [126] |
ddPCR | Known SNVs | > 0.1% | 77% (74–82% for del19/L858R) | 63% (100% for del19/L858R) | Quantitative Rapid turnaround time | [73] |
BEAMing | Known SNVs, CNVs, SV | > 0.1–0.01% | 70% | 69% | Quantitative Detects complex alteration | [66] |
NGS | Known/new SNVs, indels, CNVs, SV | 0.01%–5% | 93% (87–100% for del19/L858R) | 94% (96–100% for del19/L858R) | Quantitative Profiles large gene panels Detects more complex alteration | |
PNA-PCR | Known SNVs, indel, | 0.01% | 78% for del19/L858R | 100% for del19/L858R | Semi-quantitative | |