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Gene IDH2
Variant R172X
Impact List missense
Protein Effect unknown
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

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Transcript NM_002168.4
gDNA chr15:g.90088605_90088607
cDNA c.514_516
Protein p.R172
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168.4 chr15:g.90088605_90088607 c.514_516 p.R172 RefSeq GRCh38/hg38
NM_002168 chr15:g.90088605_90088607 c.514_516 p.R172 RefSeq GRCh38/hg38
NM_002168.3 chr15:g.90088605_90088607 c.514_516 p.R172 RefSeq GRCh38/hg38

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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 oligodendroglioma sensitive Vorasidenib FDA approved Actionable In a Phase III trial l (INDIGO) that supported FDA approval, Voranigo (vorasidenib) treatment significantly improved progression-free survival (27.7 vs 11.1 months, HR 0.39, p<0.001) and time to next intervention (HR 0.26, p<0.001) compared to placebo in adult and pediatric patients 12 years and older with WHO grade 2 oligodendroglioma or astrocytoma harboring susceptible IDH1 or IDH2 mutations, including IDH2 R172K/M/W/S/G (PMID: 37272516; NCT04164901). detail... 37272516
IDH2 R172X astrocytoma, IDH-mutant, grade 2 sensitive Vorasidenib FDA approved Actionable In a Phase III trial l (INDIGO) that supported FDA approval, Voranigo (vorasidenib) treatment significantly improved progression-free survival (27.7 vs 11.1 months, HR 0.39, p<0.001) and time to next intervention (HR 0.26, p<0.001) compared to placebo in adult and pediatric patients 12 years and older with WHO grade 2 astrocytoma or oligodendroglioma harboring susceptible IDH1 or IDH2 mutations, including IDH2 R172K/M/W/S/G (PMID: 37272516; NCT04164901). detail... 37272516
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...