EZH2 Y641 mutation
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-EZH2-Y641 |
|---|---|
| Type | Biomarker |
| Aliases | EZH2 GOFEZH2 Y641 gain-of-function mutationEZH2 mutationМутація EZH2 Y641 |
| Status | reviewed 2026-04-25 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-NCCN-BCELL-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"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)"} |
| Measurement | MethodPCR / NGS panel for EZH2 codon 641 hot-spot Unitscategorical (positive | negative) |
| Actionability lookup | {"gene": "EZH2", "variant": "Y641N"} |
| Related biomarkers | None declared |
Notes
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.
Used By
Actionability
BMA-EZH2-Y641-FL- EZH2 Y641 hotspot activating mutations occur in ~20-25% of follicular lymphoma (and rarel...
Indications
IND-FL-3L-TAZEMETOSTAT- IND-FL-3L-TAZEMETOSTAT
Questionnaires
QUEST-FL-1L-STUB- Follicular Lymphoma — first line
Regimens
REG-TAZEMETOSTAT-FL- Tazemetostat 800 mg PO BID continuous — r/r FL (EZH2-mut OR EZH2-WT after ≥2 lines)