IDH2 R172K mutation (AML)
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-IDH2-R172K |
|---|---|
| Type | Biomarker |
| Aliases | IDH2 R172KМутація IDH2 R172K (ГМЛ) |
| Status | reviewed 2026-04-30 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-ELN-AML-2022 SRC-ESMO-AML-2020 SRC-NCCN-AML-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"exon": "4", "functional_impact": "neomorphic — converts α-KG to 2-hydroxyglutarate (oncometabolite); DNA hypermethylation", "gene": "IDH2", "hgvs_protein": "p.R172K", "variant_type": "missense"} |
| Measurement | MethodNGS panel (no IDH2-specific IHC widely deployed); rapid PCR for hotspot screening Unitscategorical (positive | negative); VAF reported |
| Actionability lookup | {"gene": "IDH2", "variant": "R172K"} |
| Related biomarkers | 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.
Used By
Biomarker
BIO-IDH2-R140Q- IDH2 R140Q mutation (AML)