Clinical value of next generation sequencing of plasma cell-free DNA in gastrointestinal stromal tumors.

ABSTRACT: BACKGROUND:Gastrointestinal stromal tumor (GIST) initiation and evolution is commonly framed by KIT/PDGFRA oncogenic activation, and in later stages by the polyclonal expansion of resistant subpopulations harboring KIT secondary mutations after the onset of imatinib resistance. Thus, circulating tumor (ct)DNA determination is expected to be an informative non-invasive dynamic biomarker in GIST patients. METHODS:We performed amplicon-based next-generation sequencing (NGS) across 60 clinically relevant genes in 37 plasma samples from 18 GIST patients collected prospectively. ctDNA alterations were compared with NGS of matched tumor tissue samples (obtained either simultaneously or at the time of diagnosis) and cross-validated with droplet digital PCR (ddPCR). RESULTS:We were able to identify

SUBMITTER: Serrano C 

PROVIDER: S-EPMC7003348 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature