IDH1 R132H-Mutation (Gliom/AML)
Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.
| ID | BIO-IDH1-R132H |
|---|---|
| Art | Biomarker |
| Aliase | IDH1 R132HМутація IDH1 R132H (гліома / ГМЛ) |
| Status | reviewed 2026-04-27 | pending_clinical_signoff |
| Erkrankungen | DIS-AML |
| Quellen | SRC-EANO-GBM-2024 SRC-ESMO-AML-2020 SRC-NCCN-CNS-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": "IDH1", "hgvs_protein": "p.R132H", "variant_type": "missense"} |
| Messung | VerfahrenIHC (R132H-specific antibody) for glioma initial screen; NGS panel for AML and non-R132H IDH1/2 variants Einheitencategorical (positive | negative) |
| Nachschlagewerk für die Aktionsfähigkeit | {"gene": "IDH1", "variant":"R132H"} |
| Verwandte Biomarker | BIO-IDH-MUTATION BIO-MGMT-METHYLATION |
Anmerkungen
Defining feature of IDH-mutant glioma (per WHO 2021 CNS5 — distinct diagnostic class) and ~6-10% of AML. IHC (mIDH1-R132H antibody) is highly sensitive for this specific variant — used as first-pass glioma screen. Other IDH1 variants (R132C, R132G, R132S, R132L) are rarer and IHC-negative — require NGS. Ivosidenib (AGILE, AML 1L combo with azacitidine in IDH1-mut AML), enasidenib (IDH2 R140/R172), vorasidenib (INDIGO 2024 — first-in-class for grade 2 IDH-mut glioma post-resection — practice-changing). 2-HG MRS imaging emerging as noninvasive activity readout.
Verwendet von
Biomarker
BIO-1P19Q-CODELETION- 1p/19q CodeletionBIO-ATRX-MUTATION- ATRX-Mutation / ATRX-Verlust (IHC)BIO-IDH1-R132C- IDH1 R132C-Mutation (Gliom / Cholangiokarzinom / AML)BIO-IDH1-R132G- IDH1 R132G-Mutation (Gliom / AML)BIO-IDH2-R140Q- IDH2-R140Q-Mutation (AML)BIO-IDH2-R172K- IDH2-R172K-Mutation (AML)BIO-MGMT-METHYLATION-GLIOMA-SECONDARY- MGMT-Methylierung — Sekundär-GBM / IDH-mutant Gliom-ProgressionskontextBIO-WT1-MUTATION- WT1-Mutation (Wilms-Tumor-1-Gen)
Anwendungsgebiet
IND-AML-RR-IDH1-OLUTASIDENIB- IND-AML-RR-IDH1-OLUTASIDENIB