IDH1 R132H mutation (glioma / AML)
Vue déterministe de l'entité source de la LJAM. L'autorité clinique demeure avec les ID de la source cités et l'état d'approbation de l ́examinateur.
| ID | BIO-IDH1-R132H |
|---|---|
| Type | Biomarqueur |
| Alias | IDH1 R132HМутація IDH1 R132H (гліома / ГМЛ) |
| État | reviewed 2026-04-27 | pending_clinical_signoff |
| Maladies | DIS-AML |
| Sources | SRC-EANO-GBM-2024 SRC-ESMO-AML-2020 SRC-NCCN-CNS-2025 |
Données biomarqueurs
| Type de biomarqueur | gene_mutation |
|---|---|
| Détails de la mutation | {"exon": "4", "functional_impact": "neomorphic — converts α-KG to 2-hydroxyglutarate (oncometabolite); DNA hypermethylation", "gene": "IDH1", "hgvs_protein": "p.R132H", "variant_type": "missense"} |
| Mesure | MéthodeIHC (anticorps spécifique à R132H) pour le glioma écran initial; panneau NGS pour les variantes AML et non-R132 H IDH1/2 Unitéscategorical (positive | negative) |
| Recherche de la faisabilité | {"générique": "IDH1", "variante":"R132H"} |
| Biomarqueurs connexes | BIO-IDH-MUTATION BIO-MGMT-METHYLATION |
Notes
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.
Utilisé par
Biomarqueur
BIO-1P19Q-CODELETION- 1p/19q codelétionBIO-ATRX-MUTATION- mutation ATRX / perte ATRX (IHC)BIO-IDH1-R132C- IDH1 R132C mutation (glioma / cholangiocarcinoma / AML)BIO-IDH1-R132G- IDH1 R132G mutation (glioma / AML)BIO-IDH2-R140Q- mutation IDH2 R140Q (AML)BIO-IDH2-R172K- mutation IDH2 R172K (AML)BIO-MGMT-METHYLATION-GLIOMA-SECONDARY- méthylation MGMT — contexte de progression du glioma mutant IDH/GBM secondaireBIO-WT1-MUTATION- mutation WT1 (gène de la tumeur 1 de Wilms)
Indication
IND-AML-RR-IDH1-OLUTASIDENIB- IND-AML-RR-IDH1-OLUTASIDENIB