KIT D816V en GIST es poco frecuente como mutación primaria (más típica de la mastocitosis sistémica) pero...
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| ID | BMA-KIT-D816V-GIST |
|---|---|
| Tipo | Relevancia terapéutica |
| Situación | reviewed 2026-04-27 | pending_clinical_signoff | actionability review required |
| Enfermedades | DIS-GIST |
| Fuentes | SRC-CIVIC SRC-NCCN-MELANOMA-2025 |
Hechos relativos a la posibilidad de adoptar medidas
| Biomarcador | BIO-KIT |
|---|---|
| Variante | D816V (lazo de activación, exón 17 — raro en GIST primario; resistencia secundaria) |
| Enfermedad | DIS-GIST |
| El nivel de ESCAT | IIA |
| Combinaciones recomendadas | ripretinib (post-imatinib/sunitinib/regorafenib failure with D816V or other activation-loop secondary resistance), avapritinib (off-label / trial for KIT D816V GIST) |
| Monoterapia contraindicada | imatinib (D816V resistant), sunitinib (D816V resistant — sunitinib best for ATP-binding-pocket secondary mutations) |
| Resumen de las pruebas | KIT D816V in GIST is rare as primary mutation (more typical of systemic mastocytosis) but emerges as a secondary resistance mutation under imatinib pressure. Confers imatinib + sunitinib resistance. Ripretinib (INVICTUS, Blay Lancet Oncol 2020 — switch- control inhibitor with broad activation-loop coverage) and avapritinib (NAVIGATOR; FDA-approved in PDGFRA D842V and ASM) retain activity vs D816V. |
Notas
ESCAT IIA. OncoKB Level R1 (resistance to imatinib/sunitinib). Source- gap as DIS-GIST plus SRC-INVICTUS / SRC-NAVIGATOR not yet ingested. ctDNA monitoring useful to detect emerging D816V before radiographic progression.
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