IDH1 R132C-Mutation (Gliom/Cholangiokarzinom/AML)
Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.
| ID | BIO-IDH1-R132C |
|---|---|
| Art | Biomarker |
| Aliase | IDH1 R132CМутація IDH1 R132C (гліома / холангіокарцинома / ГМЛ) |
| Status | reviewed 2026-04-29 | pending_clinical_signoff |
| Erkrankungen | DIS-AML |
| Quellen | SRC-EANO-GBM-2024 SRC-ESMO-AML-2020 SRC-NCCN-CNS-2025 |
Biomarker-Fakten
| Biomarker-Typ | gene_mutation |
|---|---|
| Angaben zur Mutation | {"exon": "4", "functional_impact": "neomorphic — converts α-KG to 2-hydroxyglutarate (oncometabolite); DNA hypermethylation", "gene": "IDH1", "hgvs_protein": "p.R132C", "variant_type": "missense"} |
| Messung | VerfahrenNGS-Panel (R132C ist IHC-negativ mit dem R132H-spezifischen Antikörper – erfordert Sequenzierung). Liquid-Biopsie ctDNA-Tests auch erkennen R132. Einheitencategorical (positive | negative) |
| Nachschlagewerk für die Aktionsfähigkeit | {"Gen": "IDH1", "Variante":"R132C"} |
| Verwandte Biomarker | BIO-IDH1-R132H BIO-IDH-MUTATION BIO-MGMT-METHYLATION |
Anmerkungen
Second most common IDH1 variant. Distribution differs by disease: R132C is the dominant IDH1 variant in cholangiocarcinoma (~25-30% of IDH1-mutant CCA per ClarIDHy) and chondrosarcoma; in glioma it is rarer than R132H (<5%); in AML R132C accounts for ~30% of IDH1 mutations. Critically, R132C is IHC-NEGATIVE with the R132H-specific antibody (clone H09) — relying on IHC alone misses these patients. Ivosidenib (Tibsovo) is approved for IDH1-mutant cholangiocarcinoma (ClarIDHy 2L+) and IDH1-mutant AML (AGILE in combination with azacitidine 1L unfit; monotherapy R/R) — labels cover all IDH1 variants on the proven hotspot list (R132C/R132G/R132H/R132L/R132S), not just R132H. Reuses existing REG-IVOSIDENIB and IDH1-keyed indications via this biomarker entity.
Verwendet von
Anwendungsgebiet
IND-AML-RR-IDH1-OLUTASIDENIB- IND-AML-RR-IDH1-OLUTASIDENIB