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Table 1 Sensitivity of detection of circulating tumor DNA (ctDNA)

From: Management of acquired resistance to EGFR TKI–targeted therapy in advanced non-small cell lung cancer

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 [123, 124]
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 [70, 71]
Scorpion-ARMS Known SNVs 1–3% 61.8%–85.7% for del19/L858R 94.3–100% for del19/L858R Semi-quantitative [72, 125]
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 [127,128,129]
PNA-PCR Known SNVs, indel, 0.01% 78% for del19/L858R 100% for del19/L858R Semi-quantitative [130, 131]
  1. SNV single nucleotide variant, ctDNA circulating tumor DNA, ARMS amplification refractory mutation system, BEAMing beads, emulsion, amplification and magnetics, ddPCR digital droplet polymerase chain reaction, del deletion, indel insertion/deletion, FDA US Food and Drug Administration, NGS next-generation sequencing, CNVs copy number variants, SV structure variants, HRMA high-resolution melting analysis, dHLPC denaturing high performance liquid chromatography, MS mass spectrophotometry (MS), PNA-PCR peptide nucleic acid-polymerase chain reaction