IDH2 R140Q-Mutation (AML)
Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.
| ID | BIO-IDH2-R140Q |
|---|---|
| Art | Biomarker |
| Aliase | IDH2 R140QМутація IDH2 R140Q (ГМЛ) |
| Status | reviewed 2026-04-30 | pending_clinical_signoff |
| Erkrankungen | None declared |
| Quellen | SRC-ELN-AML-2022 SRC-ESMO-AML-2020 SRC-NCCN-AML-2025 |
Biomarker-Fakten
| Biomarker-Typ | gene_mutation |
|---|---|
| Angaben zur Mutation | {"exon": "4", "functional_impact": "neomorphic — converts α-KG to 2-hydroxyglutarate (oncometabolite); DNA hypermethylation", "gene": "IDH2", "hgvs_protein": "p.R140Q", "variant_type": "missense"} |
| Messung | VerfahrenNGS-Panel (keine IDH2-spezifische IHC weit verbreitet); schnelle PCR für Hotspot-Screening Einheitencategorical (positive | negative); VAF reported |
| Nachschlagewerk für die Aktionsfähigkeit | {"Gene": "IDH2", "Variante":"R140Q"} |
| Verwandte Biomarker | BIO-IDH-MUTATION BIO-IDH1-R132H BIO-IDH2-R172K |
Anmerkungen
R140Q is the dominant IDH2 hotspot in AML (~70-80% of IDH2-mut AML; ~6-8% of all AML). Enasidenib (IDHIFA, AG-221) FDA-approved Aug 2017 for R/R-AML-IDH2 monotherapy (phase 1/2: ORR 38%, CR 19%). 1L combination with azacitidine in unfit patients (AG221-AML-005: ORR 71%). Differentiation syndrome (~14%) — same monitoring + dexamethasone protocol as ivosidenib. Hyperbilirubinemia (~80% any grade; UGT1A1 inhibition — usually asymptomatic, no dose adjustment unless symptomatic). IDHENTIFY R/R AML phase-3 did not show OS benefit vs conventional care over all comers but enriched in IDH2-mut who had not received prior HMA. Combination with venetoclax + azacitidine under study. Triggers RF-AML-IDH2-MUT-ACTIONABLE (existing) for algorithm routing.
Verwendet von
Biomarker
BIO-IDH2-R172K- IDH2-R172K-Mutation (AML)