IDH1 / IDH2 mutation status
Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.
| ID | BIO-IDH-MUTATION |
|---|---|
| Тип | Біомаркер |
| Синоніми | IDH mutationIDH-mutantСтатус мутацій IDH1 / IDH2 |
| Статус | переглянуто 2026-04-26 |
| Хвороби | Не вказано |
| Джерела | SRC-EANO-GBM-2024 SRC-NCCN-CNS-2025 |
Дані про біомаркер
| Тип біомаркера | gene_mutation |
|---|---|
| Деталі мутації | {"functional_impact": "neomorphic — produces oncometabolite 2-HG, alters DNA + histone methylation", "gene": "IDH1, IDH2", "hotspots": ["IDH1 R132H/C/G/L/S", "IDH2 R140Q/W, R172K/G/M/W/S"], "variant_type": "missense (gain-of-function)"} |
| Вимірювання | MethodIHC (R132H-specific antibody for screening) + NGS/PCR for non-canonical variants Unitscategorical: IDH-mutant (specify variant) | IDH-WT |
| Пов’язані біомаркери | Не вказано |
Де використовується
Diseases
DIS-CHOLANGIOCARCINOMA- Cholangiocarcinoma (bile duct cancer)DIS-CHONDROSARCOMA- ChondrosarcomaDIS-GLIOMA-LOW-GRADE- Low-grade glioma (LGG, WHO grade 2 — IDH-mutant)
Indications
IND-CHOLANGIO-2L-IDH1-IVOSIDENIB- IND-CHOLANGIO-2L-IDH1-IVOSIDENIBIND-GBM-NEWLY-DIAGNOSED-ELDERLY-HYPORT- IND-GBM-NEWLY-DIAGNOSED-ELDERLY-HYPORTIND-GBM-NEWLY-DIAGNOSED-ELDERLY-TMZ- IND-GBM-NEWLY-DIAGNOSED-ELDERLY-TMZIND-GBM-NEWLY-DIAGNOSED-STUPP- IND-GBM-NEWLY-DIAGNOSED-STUPPIND-GLIOMA-LOW-GRADE-1L-RT-PCV- IND-GLIOMA-LOW-GRADE-1L-RT-PCV
Questionnaires
QUEST-GBM-1L-STUB- Glioblastoma — first line
Біомаркер
BIO-1P19Q-CODELETION- 1p/19q codeletionBIO-ATRX-MUTATION- ATRX mutation / ATRX loss (IHC)BIO-IDH1-R132C- IDH1 R132C mutation (glioma / cholangiocarcinoma / AML)BIO-IDH1-R132G- IDH1 R132G mutation (glioma / AML)BIO-IDH1-R132H- IDH1 R132H mutation (glioma / AML)BIO-IDH2-R140Q- IDH2 R140Q mutation (AML)BIO-IDH2-R172K- IDH2 R172K mutation (AML)BIO-WT1-MUTATION- WT1 mutation (Wilms tumor 1 gene)
Клінічна застосовність
BMA-IDH-MUTATION-GLIOMA-LOW-GRADE- IDH1/IDH2 mutation is the defining molecular feature of WHO grade 2 (and 3) diffuse gliom...BMA-IDH1-R132-CHOLANGIO- IDH1 R132 hotspot mutations occur in ~13-20% of intrahepatic cholangiocarcinoma and are F...BMA-IDH1-R132C-AML- IDH1 R132C — same therapeutic implications as R132H; ivosidenib targets all R132 variants.BMA-IDH1-R132C-GBM- IDH1 R132C in glioma — non-canonical; same therapeutic implications as R132H (vorasidenib...BMA-IDH1-R132G-AML- IDH1 R132G — covered by IDH1-mut label (any R132).BMA-IDH1-R132G-GBM- IDH1 R132G — covered by IDH-mut glioma vorasidenib label.BMA-IDH1-R132H-AML- IDH1 R132 mutations (~6-10% of AML). Ivosidenib monotherapy (AGILE, Montesinos et al. NEJ...BMA-IDH1-R132H-B-ALL- IDH1 mutation in B-ALL is rare. Tissue-agnostic ivosidenib not approved in lymphoid; per...BMA-IDH1-R132H-DLBCL-NOS- IDH1 R132H in DLBCL is exceptional (<1%). No targeted therapy in this indication; per usu...BMA-IDH1-R132H-GBM- IDH1 R132H — defines IDH-mutant astrocytoma (WHO 2021 grade 2-4) and oligodendroglioma (w...BMA-IDH1-R132H-MDS-HR- IDH1 R132 in MDS — ivosidenib monotherapy active (DiNardo et al. JCO 2021 — ORR 75% MDS,...BMA-IDH1-R132H-MDS-LR- IDH1 R132 in MDS — ivosidenib monotherapy active (DiNardo et al. JCO 2021 — ORR 75% MDS,...BMA-IDH1-R132L-AML- IDH1 R132L — covered by IDH1-mut label.BMA-IDH1-R132L-GBM- IDH1 R132L — covered by vorasidenib.BMA-IDH1-R132S-AML- IDH1 R132S — covered by IDH1-mut label.BMA-IDH1-R132S-GBM- IDH1 R132S — covered by vorasidenib.BMA-IDH2-R140Q-AITL- IDH2 R140Q in AITL — much less common than R172 in T-cell lymphoma (myeloid pattern). Ena...BMA-IDH2-R140Q-AML- IDH2 R140Q (~5-9% of AML). Enasidenib (IDHIFA, AG221-C-001 Stein et al. Blood 2017) FDA-a...BMA-IDH2-R140Q-DLBCL-NOS- IDH2 R140Q in DLBCL is exceptional (<1%). No targeted therapy in this indication; per usu...BMA-IDH2-R140Q-MDS-HR- IDH2 R140Q in MDS — enasidenib monotherapy active in MDS (NCT01915498, DiNardo et al. Blo...BMA-IDH2-R140Q-MDS-LR- IDH2 R140Q in MDS — enasidenib monotherapy active in MDS (NCT01915498, DiNardo et al. Blo...BMA-IDH2-R140Q-T-ALL- IDH2 mutation in T-ALL is rare. Standard T-ALL protocol; enasidenib off-label R/R conside...BMA-IDH2-R172K-AITL- IDH2 R172 mutations occur in ~30% of AITL (TFH-derived PTCL). Enasidenib monotherapy acti...BMA-IDH2-R172K-AML- IDH2 R172K — slightly different metabolic profile but same enasidenib indication.BMA-IDH2-R172K-MDS-HR- IDH2 R172K in MDS — same enasidenib rationale as R140Q.BMA-IDH2-R172K-MDS-LR- IDH2 R172K in MDS — same enasidenib rationale as R140Q.
Тривожна ознака
RF-CHONDROSARCOMA-HIGH-RISK-BIOLOGY- Adverse subtype or molecular feature in chondrosarcoma: dedifferentiated subtype (high-gr...