Pilot study evaluates plasma whole-exome sequencing against tissue whole-exome sequencing in lung cancer, suggesting strong monitoring potential.
Key Points
This pilot study aims to evaluate the analytical performance and concordance of plasma whole-exome sequencing (pWES) compared to tissue whole-exome sequencing (tWES) in non-small cell lung cancer (NSCLC).
Analyzed cell-free DNA from plasma samples of NSCLC patients using the PredicineWES+ assay.
Measured tumor fraction using copy number burden score and mutation allele fraction.
Calculated concordance using Jaccard Index, Spearman correlation, and Wilcoxon rank-sum test.
39 out of 40 plasma samples were analyzed with strong correlation between pWES and pWGS (ρ = 0.64).
High tumor fraction (cnbScore ≥5.6) linked to late-stage tumors and squamous cell carcinoma.
Concordance rate of driver mutations between pWES and tWES was high (JI = 0.72) with significant correlation in tumor mutational burden (ρ = 0.69).