Mutación IDH2 R172K (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-R172K |
|---|---|
| Tipo | Biomarcador |
| Aliaces | IDH2 R172KМутація IDH2 R172K (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.R172K», "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 | {"gene": "IDH2", "variante":"R172K"} |
| Productos químicos y químicos | BIO-IDH-MUTATION BIO-IDH1-R132H BIO-IDH2-R140Q |
Notas
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.
Utilizado por
Biomarcador
BIO-IDH2-R140Q- Mutación IDH2 R140Q (AML)