IDH2 R172K-Mutation (AML)
Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.
| ID | BIO-IDH2-R172K |
|---|---|
| Art | Biomarker |
| Aliase | IDH2 R172KМутація IDH2 R172K (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.R172K", "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 | ‚Gen‘: ‚IDH2‘, ‚Variante‘:‚R172K‘} |
| Verwandte Biomarker | BIO-IDH-MUTATION BIO-IDH1-R132H BIO-IDH2-R140Q |
Anmerkungen
R172K is the second IDH2 hotspot in AML (~20-30% of IDH2-mut AML; ~2-3% of all AML). Enasidenib (IDHIFA, AG-221) FDA-approved across both R140 and R172 variants. Some series (Stein et al., Blood 2017) suggest R172K carries lower CR rate than R140Q on enasidenib mono, but still substantial activity. Differentiation syndrome (~14%) and hyperbilirubinemia same as R140Q. Glioma IDH2 R172K is a separate clinical entity (vorasidenib INDIGO trial) — this biomarker is AML-scoped; glioma IDH2 captured under BIO-IDH-MUTATION composite. Triggers RF-AML-IDH2-MUT-ACTIONABLE (existing) for algorithm routing.
Verwendet von
Biomarker
BIO-IDH2-R140Q- IDH2-R140Q-Mutation (AML)