The gene involved in GIST
High-Yield Explanation
Pathogenesis of GISTs
Approximately 75% to 80% of all GISTs have oncogenic, gain-of-function mutations of the gene encoding the tyrosine kinase c-KIT.
Approximately 8% of GISTs have mutations that activate a related tyrosine kinase, platelet-derived growth factor receptor a (PDGFRA).
Constitutively active c-KIT or PDGFRA receptor tyrosine kinases activate RAS and P13K/AKT pathways and thereby promote tumor cell proliferation.