Mutación IDH2 R140Q (AML)
Vista determinista de la entidad fuente YAML. La autoridad clínica sigue con los ID de fuente citados y estado de firma del revisor.
| ID | BIO-IDH2-R140Q |
|---|---|
| Tipo | Biomarcador |
| Aliaces | IDH2 R140QМутація IDH2 R140Q (ГМЛ) |
| Situación | reviewed 2026-04-30 | pending_clinical_signoff |
| Enfermedades | Ninguna declarada |
| Fuentes | SRC-ELN-AML-2022 SRC-ESMO-AML-2020 SRC-NCCN-AML-2025 |
Datos sobre biomarcadores
| Tipo de biomarcador | gene_mutation |
|---|---|
| Detalles de la mutación | {"exón": "4", "functional_impact":"neomórfico — convierte α-KG en 2-hidroxiglutarato (oncometabolita); hipermetilación del ADN", "geno": IDH2, "hgvs_protein": «p.R140Q», "variant_type": „misense"} |
| Medición | MétodoNGS panel (no IDH2-specific IHC widely deployed); rapid PCR for hotspot screening Unidadescategorical (positive | negative); VAF reported |
| Consulta de la capacidad de acción | {"gen": "IDH2", "variante":"R140Q"} |
| Productos químicos y químicos | BIO-IDH-MUTATION BIO-IDH1-R132H BIO-IDH2-R172K |
Notas
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.
Utilizado por
Biomarcador
BIO-IDH2-R172K- Mutación IDH2 R172K (AML)