期刊
EXPERIMENTAL AND MOLECULAR PATHOLOGY
卷 123, 期 -, 页码 -出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.yexmp.2021.104685
关键词
Next generation sequencing; NGS; Liquid biopsy; Cell free DNA; ctDNA; cfDNA; ddPCR; Lung cancer; Blood; Mutation; EGFR; T790M; Digital droplet PCR; NSCLC
类别
Detection of EGFR mutations from blood plasma is a non-invasive alternative for therapy monitoring of non-small-cell lung cancer patients. The Reveal ctDNATM 28 NGS assay shows comparable sensitivity and specificity to ddPCR, but slightly lower sensitivity. A combination of NGS and ddPCR may be the ideal approach for therapy monitoring.
Detection of EGFR mutations from blood plasma represents a gentle, non-invasive alternative to rebiopsy and can therefore be used for therapy monitoring of non-small-cell lung cancer (NSCLC) patients. The aim of this project was to investigate whether the Reveal ctDNATM 28 NGS assay (ArcherDX, Boulder, CO), has a comparable sensitivity and specificity to droplet digital PCR (ddPCR, gold-standard) and is therefore suitable for therapy monitoring of progressing lung cancer patients. First, we validated the NGS assay with a commercially available reference material (SeraCare, Massachusetts, US). Using an input of 22 ng, a sensitivity of 96% and a specificity of 100% could be achieved for variant allele frequencies (VAF) of 0.5%. For variants at a VAF of 0.1% the sensitivity was substantially reduced. Next, 28 plasma samples from 16 patients were analyzed and results were compared to existing ddPCR data. This comparative analysis of patient samples revealed a concordance of 91% between NGS and ddPCR. These results confirm that the Reveal ctDNATM 28 NGS assay can be used for therapy monitoring of patients under TKI therapy. However, due to the slightly superior sensitivity of ddPCR, a combination of NGS (with broad coverage of a large number of genomic loci) and ddPCR (with targeted highly sensitive detection of specific mutations) might be the ideal approach.
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