作者: Anthonie J. van der Wekken , Wim Timens , Harry J.M. Groen , Klaas Kok , Anna A. Rybczynska
DOI: 10.1101/2021.01.26.21250013
关键词:
摘要: Background Nowadays, the detection of therapy-guiding aberrations such as EGFR mutations and ALK fusion genes in tumor tissue is common practice for lung cancer patients. The aim this study to explore feasibility detecting RNA isolated from platelets. Methods We applied a single primed enrichment-based targeted next generation sequencing (NGS) approach on 10 platelet samples patients with active disease. In parallel, we RNA-based ddPCR focusing p.(T790M), p.(L858R) E19del, KRAS codon 12 13 ALK-EML4/KIF5B fusions 22 tumors known harbor one these drivers. For 11 cases analysis circulating cell free (cf)DNA same blood sample was performed parallel. Results Despite having good quality NGS data, none variants detected biopsy were observed platelet-derived samples. Using more sensitive ddPCR, three mutant droplets not any seven samples, while six cfDNA which five extracted sample. out nine fractional abundances 0.07%, 0.11% 0.55%. Analysis revealed KRAS-mutant four them. Two corresponding also positive KRAS. No derived samples. Conclusions The level tumor-derived transcripts platelets non-small too low be measured reliably clinically relevant alterations EGFR, gene transcripts. Keywords: cancer, RNA, ALK,