KIT D816V en mastocitosis sistémica avanzada (AdvSM — agresivo SM, SM-AHN, mastocélulas leu...
Vista determinista de la entidad fuente YAML. La autoridad clínica sigue con los ID de fuente citados y estado de firma del revisor.
| ID | BMA-KIT-D816V-MASTOCYTOSIS |
|---|---|
| Tipo | Relevancia terapéutica |
| Situación | reviewed 2026-04-27 | pending_clinical_signoff | actionability review required |
| Enfermedades | DIS-MASTOCYTOSIS |
| Fuentes | SRC-CIVIC SRC-NCCN-MELANOMA-2025 |
Hechos relativos a la posibilidad de adoptar medidas
| Biomarcador | BIO-KIT |
|---|---|
| Variante | D816V (loop de activación, exón 17 — >90% de mastocitosis sistémica avanzada) |
| Enfermedad | DIS-MASTOCYTOSIS |
| El nivel de ESCAT | IA |
| Combinaciones recomendadas | avapritinib monotherapy (preferred 1L AdvSM per PATHFINDER), midostaurin monotherapy (alternative; broader registration) |
| Monoterapia contraindicada | imatinib (D816V resistant — only KIT-WT or non-D816V AdvSM benefits) |
| Resumen de las pruebas | KIT D816V in advanced systemic mastocytosis (AdvSM — aggressive SM, SM-AHN, mast cell leukemia): midostaurin (EXPLORER / D2201 phase 2, Gotlib NEJM 2016 — ORR 60%) and avapritinib (PATHFINDER / EXPLORER, Gotlib JCO 2023 — ORR 75%, deeper molecular response) are FDA- approved. Avapritinib selectively targets the D816V conformation with high potency. Imatinib is INACTIVE against D816V — distinct from imatinib-sensitive juxtamembrane mutations. |
Notas
ESCAT IA. OncoKB Level 1. Source-gap: SRC-NCCN-SM-2025 / SRC-EXPLORER / SRC-PATHFINDER not yet ingested. AdvSM diagnosis requires WHO- defined C-findings (cytopenias, hepatomegaly + dysfunction, organ damage). Indolent SM is generally NOT treated with KIT-TKI; symptomatic treatment only.
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