mutation IDH2 R172K (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-IDH2-R172K |
|---|---|
| Type | Biomarqueur |
| Alias | IDH2 R172KМутація IDH2 R172K (ГМЛ) |
| État | reviewed 2026-04-30 | pending_clinical_signoff |
| Maladies | Aucune déclaration |
| Sources | SRC-ELN-AML-2022 SRC-ESMO-AML-2020 SRC-NCCN-AML-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": "IDH2", "hgvs_protein": "p.R172K", "variant_type": "missense"} |
| Mesure | MéthodeNGS panel (no IDH2-specific IHC widely deployed); rapid PCR for hotspot screening Unitéscategorical (positive | negative); VAF reported |
| Recherche de la faisabilité | {"générique": "IDH2", "variante":"R172K"} |
| Biomarqueurs connexes | BIO-IDH-MUTATION BIO-IDH1-R132H BIO-IDH2-R140Q |
Notes
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.
Utilisé par
Biomarqueur
BIO-IDH2-R140Q- mutation IDH2 R140Q (AML)