High proportion of wild-type gastrointestinal stromal tumor in a cohort of Chilean patients screened by KIT and PDGFRA exome profiling

Background: About 80–90% of gastrointestinal stromal tumor (GIST) patients harbor KIT proto-oncogene (KIT) and/or platelet-derived growth factor receptor alpha (PDGFRA) gain-of-function mutations. The KIT gene also encodes a tyrosine kinase receptor; therefore, KIT/PDGFRA alterations not only serve as hallmarks, but also as potential therapeutic targets. Previous reports have demonstrated that differences in the KIT/PDGFRA mutation rates are generally attributed to ethnic and/or technical factors. Herein, we report a molecular profiling of KIT/PDGFRA in a Latin American cohort of GIST patients.