KIT D816V mutation
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-KIT-D816V |
|---|---|
| Type | Biomarker |
| Aliases | KIT D816VМутація KIT D816V |
| Status | reviewed 2026-04-27 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-NCCN-SM-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"exon": "17", "functional_impact": "constitutive KIT activation (resistant to imatinib; sensitive to avapritinib, midostaurin)", "gene": "KIT", "hgvs_protein": "p.D816V", "variant_type": "missense"} |
| Measurement | MethodAllele-specific PCR (sensitive; preferred for low-burden mastocytosis); NGS panel Unitscategorical (positive | negative); VAF % when relevant |
| Actionability lookup | {"gene": "KIT", "variant": "D816V"} |
| Related biomarkers | BIO-KIT |
Notes
Found in ~95% of advanced systemic mastocytosis (ASM, SM-AHN, MCL). Confers resistance to type-II KIT inhibitors (imatinib, sunitinib). Avapritinib (Ayvakit) — first KIT D816V-selective TKI; FDA-approved 2021 for advanced SM and 2023 for indolent SM. Midostaurin (Stoffregen 2016): historic standard pre-avapritinib. Bone-marrow mast-cell quantification + tryptase + KIT D816V VAF together define disease burden. Allele-specific PCR is the gold standard for SM diagnosis (sensitivity to ~0.01% VAF).
Used By
No reverse references found in the YAML corpus.