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EZH2 Y641 Mutation

Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.

IDBIO-EZH2-Y641
ArtBiomarker
Aliase
EZH2 GOFEZH2 Y641 VerstärkungsmutationEZH2-MutationМутація EZH2 Y641
Statusreviewed 2026-04-25 | pending_clinical_signoff
ErkrankungenDIS-FL
QuellenSRC-NCCN-BCELL-2025

Biomarker-Fakten

Biomarker-Typgene_mutation
Angaben zur Mutation{"functional_impact": "gain_of_function (PRC2 hyper-trimethylation of H3K27)", "gene": "EZH2", "hgvs_protein": "p.Y641N (most common; F/S/H/C variants also activating)", "variant_type": "missense (codon 641 — Y641N/F/S/H/C)"}
Messung
VerfahrenPCR/NGS-Panel für EZH2-Codon 641 Hot-Spot
Einheitencategorical (positive | negative)
Nachschlagewerk für die Aktionsfähigkeit{"gene": "EZH2", "Variante":"Y641N"}
Verwandte BiomarkerNone declared

Anmerkungen

Cross-disease relevance: - **Follicular Lymphoma** (~25% Y641-mutated): predicts response to tazemetostat (EZH2 inhibitor) in r/r FL. FDA-approved for EZH2-mutated FL after ≥2 prior lines. Wild-type EZH2 r/r FL has lower response rate. NCCN: tazemetostat preferred in 3L+ for EZH2-mut. - **DLBCL** (~20%): GCB subtype enriched. Tazemetostat investigational. - **MM** (~5%): mostly subset with t(4;14) — investigational. Direct algorithm impact: future r/r FL routing toward tazemetostat vs other 3L+ options. Currently informational + 2L flag for clinical trials.

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