EZH2 Y641 mutaciones activadoras de hotspot ocurren en ~20-25% del linfoma folicular (y raras...
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-EZH2-Y641-FL |
|---|---|
| Tipo | Relevancia terapéutica |
| Situación | reviewed 2026-04-27 | pending_clinical_signoff | actionability review required |
| Enfermedades | DIS-FL |
| Fuentes | SRC-CIVIC SRC-ESMO-FL-2024 SRC-NCCN-BCELL-2025 |
Hechos relativos a la posibilidad de adoptar medidas
| Biomarcador | BIO-EZH2-Y641 |
|---|---|
| Variante | Y641N/F/H/S/C activando mutaciones en el dominio SET: hipermetilación de ganancia de función H3K27; ~20-25% del linfoma folicular |
| Enfermedad | DIS-FL |
| El nivel de ESCAT | IB |
| Combinaciones recomendadas | tazemetostat monotherapy (R/R EZH2-mutated FL after ≥2 prior systemic therapies per SRC-NCCN-BCELL-2025, SRC-ESMO-FL-2024) |
| Resumen de las pruebas | EZH2 Y641 hotspot activating mutations occur in ~20-25% of follicular lymphoma (and rarely in DLBCL/HGBL). Tazemetostat is a selective EZH2 inhibitor FDA-approved for relapsed/refractory FL: in EZH2- mutated FL after ≥2 prior lines, ORR 69%, mPFS 13.8 mo (E7438-202 Morschhauser Lancet Oncol 2020); in EZH2-WT FL, ORR 35%, mPFS 11.1 mo — mutated population had stronger responses, leading to a companion-diagnostic-paired indication per SRC-NCCN-BCELL-2025, SRC-ESMO-FL-2024. |
Notas
ESCAT IB / OncoKB Level 1. cobas EZH2 Mutation Test is the companion diagnostic. EZH2-WT subset has FDA approval as well but with ~halved ORR — mutation testing improves selection per ESMO 2024. EZH2-Y641 in DLBCL: investigational; not approved (DLBCL trials in combination with R-CHOP have not yet read out positively per SRC-NCCN-BCELL-2025). Source-gap: SRC-E7438-202 (Morschhauser 2020) not yet ingested.
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