Molecular Profile Detail

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Profile Name IDH2 R140Q IDH2 I319M
Gene Variant Detail

IDH2 I319M (no effect - predicted)

IDH2 R140Q (gain of function)

Relevant Treatment Approaches

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Molecular Profile Indication/Tumor Type Response Type Relevant Treatment Approaches Therapy Name Approval Status Evidence Type Efficacy Evidence References
IDH2 R140Q IDH2 I319M acute myeloid leukemia resistant Enasidenib Case Reports/Case Series Actionable In a clinical study, IDH2 I319M 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 I319M in trans or in cis with IDH2 R140Q conferred resistance to Idhifa (enasidenib) in culture, supporting a mechanism of variants cooperating to confer resistance (PMID: 29950729). 29950729
IDH2 R140Q IDH2 I319M 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 I319M in culture (PMID: 36222845). 36222845
IDH2 R140Q IDH2 I319M acute myeloid leukemia resistant Enasidenib Case Reports/Case Series Actionable In a clinical case study, IDH2 I319M was identified as an acquired mutation in a patient with acute myeloid leukemia harboring IDH2 R140Q upon progression on Idhifa (enasidenib) (PMID: 36222845). 36222845