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Target intelligence / Profile preview
KIT D816V Mutant (KIT D816V)
- Target
- KIT D816V
- Molecular classification
- Receptor Tyrosine Kinase, Type III Receptor Tyrosine Kinase, Mutant Kinase
01
Overview
The KIT D816V mutant is a constitutively active form of the receptor tyrosine kinase involved primarily in driving clonal expansion and accumulation of neoplastic mast cells. Its detection has major diagnostic, prognostic, and therapeutic implications—especially regarding resistance to imatinib—and requires sensitive molecular assays due to often low abundance within patient samples.
- Other names
- CD117 D816VKIT receptor D816VKIT tyrosine kinase D816V
02
Mechanism of action
Inhibition of tyrosine kinase activity (though often with resistance in the case of D816V)
03
Biological functions
Cell signalingMast cell differentiationMast cell proliferationMast cell survivalConstitutive kinase activity
04
Disease associations
Systemic MastocytosisAggressive MastocytosisMast Cell Leukemia
05
Safety considerations
Resistance to imatinib and some other tyrosine kinase inhibitorsPotential for disease progression in indolent SM with early progenitor involvementSide effects associated with tyrosine kinase inhibitors
06
Interacting drugs
Imatinib mesylate
2 more in the full profile.
07
Biomarkers
KIT D816V mutation presence in bone marrowKIT D816V mutation presence in peripheral bloodMutant allele burdenMulti-lineage involvement of D816V
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