IDH1 R132C mutation (glioma / cholangiocarcinoma / 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-IDH1-R132C |
|---|---|
| Type | Biomarqueur |
| Alias | IDH1 R132CМутація IDH1 R132C (гліома / холангіокарцинома / ГМЛ) |
| État | reviewed 2026-04-29 | pending_clinical_signoff |
| Maladies | DIS-AML |
| Sources | SRC-EANO-GBM-2024 SRC-ESMO-AML-2020 SRC-NCCN-CNS-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": "IDH1", "hgvs_protein": "p.R132C", "variant_type": "missense"} |
| Mesure | MéthodePanneaux NGS (R132C est IHC-négatif avec l'anticorps spécifique R132H - nécessite séquençage). Les tests de biopsie liquide ctDNA détectent également R132. Unitéscategorical (positive | negative) |
| Recherche de la faisabilité | {"générique": "IDH1", "variante":"R132C"} |
| Biomarqueurs connexes | BIO-IDH1-R132H BIO-IDH-MUTATION BIO-MGMT-METHYLATION |
Notes
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.
Utilisé par
Indication
IND-AML-RR-IDH1-OLUTASIDENIB- IND-AML-RR-IDH1-OLUTASIDENIB