Liquid biopsy in gastrointestinal stromal tumors -- Simultaneous detection of primary and secondary mutations with an NGS based circulating tumor DNA assay

Abstract

Introduction Introduction Methods Results Discussion References Gastrointestinal Stromal tumors (GISTs) are the most common neoplasms of mesenchymal origin arising from the gastrointestinal tract. GISTs are mostly characterised by one predominant activating mutation in KIT (KIT proto-oncogene receptor tyrosine kinase) or PDGFRA (platelet derived growth factor receptor alpha) genes1-3. Under pharmacological pressure, one or more secondary mutations can develop in KIT, conferring resistance to tyrosine kinase inhibitor, imatinib. In imatinib-resistant GISTs, secondary mutations can occur in the ATP binding pocket, encoded by exons 13 and 14 or in the kinase activation loop, encoded predominantly by exon 174. In vitro studies ha ...