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Profile Name | IDH2 R140Q IDH2 Q316E |
Gene Variant Detail | |
Relevant Treatment Approaches |
Molecular Profile | Indication/Tumor Type | Response Type | Relevant Treatment Approaches | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|---|
IDH2 R140Q IDH2 Q316E | acute myeloid leukemia | resistant | Enasidenib | Case Reports/Case Series | Actionable | In a clinical study, IDH2 Q316E was identified as an acquired mutation in trans with the original IDH2 R140Q in a patient with acute myeloid leukemia (AML), who developed resistance to Idhifa (enasidenib) after initial response, and coexpression of IDH2 Q316E in trans or in cis with IDH2 R140Q conferred resistance to Idhifa (enasidenib) in culture and in animal models of AML, supporting a mechanism of variants cooperating to confer resistance (PMID: 29950729). | 29950729 | |
IDH2 R140Q IDH2 Q316E | leukemia | predicted - resistant | Enasidenib | Preclinical - Biochemical | Actionable | In a preclinical study, Idhifa (enasidenib) did not inhibit Idh2 activity and R-2HG production in a leukemia cell line expressing IDH2 R140Q and Q316E in culture (PMID: 36222845). | 36222845 |