Mutational analysis of c-KIT and PDGFRA in GIST cases diagnosed locally

Abstract

Introduction: The pathogenesis of most gastrointestinal stromal tumours (GISTs) is associated with activating mutations of the proto-oncogene tyrosine kinase KIT (c-KIT). Activating mutations are also found in the homologous tyrosine kinase platelet-derived growth factor receptor a (PDGFRA). Accurate diagnosis of GIST is essential due to the availability of targeted therapy. Immunohistochemistry (IHC) for CD117 (c-KIT receptor) is routinely performed in the diagnostic workup, however, it does not provide complete sensitivity, as there are nearly 5% of GISTs that are CD117 negative. The aim of this study was to identify cKIT and PDGFRA mutations present in GIST cases diagnosed locally.