KIT (CD117)
Central oncogenic driver — mutated receptor tyrosine kinase
- Expression
- Constitutively activated (D816V mutation)
- Evidence level
- established
- Targeted by
- Midostaurin, Avapritinib, Imatinib (non-D816V only)
Role in pathogenesis
KIT is a transmembrane tyrosine kinase receptor that normally binds SCF to regulate mast cell survival and proliferation. The D816V gain-of-function mutation causes ligand-independent receptor activation, driving all downstream oncogenic signaling. Present in >90% of adult SM cases.