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|Gene Variant Descriptions||IDH2 R172X indicates any Idh2 missense mutation that results in the replacement of the arginine (R) at amino acid 172 by a different amino acid. R172 variants are hotspot mutations in Idh2, which may confer a gain of function to Idh2 resulting in conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) (PMID: 28711227, PMID: 21326614, PMID: 25495392).|
|Associated Drug Resistance|
|Category Variants Paths||
IDH2 mutant IDH2 R172X
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|IDH2 R172X||myelodysplastic syndrome||not applicable||N/A||Guideline||Prognostic||IDH2 R172X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org).||detail...|
|IDH2 R172X||myelodysplastic syndrome||predicted - sensitive||Enasidenib||Phase II||Actionable||In a Phase II trial, Idhifa (enasidenib) treatment was well tolerated and resulted in an overall response rate of 43% (9/21, 5 complete remission (CR), 1 partial remission, 1 marrow CR, 2 hematological improvement only) in patients with higher-risk myelodysplastic syndrome harboring IDH2 R140 or R172 mutations who were refractory to or progressed on hypomethylating agents, with a median overall survival of 21.3 months (J Clin Oncol 39, no. 15_suppl (May 20, 2021) 7010-7010; NCT03383575).||detail...|
|IDH2 R172X||myelodysplastic syndrome||predicted - sensitive||Azacitidine + Enasidenib||Phase II||Actionable||In a Phase II trial, Idhifa (enasidenib) and Vidaza (azacitidine) combination treatment was well tolerated and resulted in an overall response rate of 68% (30/46, 11 complete remission (CR), 3 partial remission, 12 marrow CR, 4 hematological improvement only) in patients with higher-risk myelodysplastic syndrome harboring IDH2 R140 or R172 mutations who were naive to hypomethylating agents, with a median overall survival of 21.3 months (J Clin Oncol 39, no. 15_suppl (May 20, 2021) 7010-7010; NCT03383575).||detail...|
|IDH2 R172X||acute myeloid leukemia||predicted - sensitive||LY3410738||Phase I||Actionable||In a Phase I trial, LY3410738 demonstrated safety and inhibited D-2-HG in patients with relapsed or refractory IDH-mutant acute myeloid leukemia, resulting in a composite complete remission (CRc) rate of 46% (6/13, 4 CR, 1 CRh, 1 CRi/CRp) in IDH inhibitor-naive patients harbor IDH2 R172 mutations (Cancer Res (2023) 83 (8_Supplement): CT026; NCT04603001).||detail...|