Molecule

KIT (CD117)

Central oncogenic driver — mutated receptor tyrosine kinase

Expression change
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.

Sources (3)

DetailsValent P et al. (2001) Diagnostic criteria and classification of mastocytosis: a consensus proposalDOI
DetailsChantran Y et al. (2023) KIT Mutations and Other Genetic Defects in MastocytosisDOI
DetailsGotlib J et al. (2016) Efficacy and Safety of Midostaurin in Advanced Systemic MastocytosisDOI