Quantitative detection of an IDH2 mutation for minimal residualdisease monitoring in acute myeloid leukemia patients and itscomparison with mutations in the NPM1 gene

Acquired mutations in the IDH1 and IDH2 genes have been detected in various hematological disorders, including acute myeloid leukemia (AML), where the incidence has been reported to be 15%. The IDH1 and IDH2 genes encode enzymes that catalyze oxidative decarboxylation of isocitrate to alpha-ketoglutarate (alpha-KG). Somatic mutations cause their dysfunction and an accumulation of aberrant 2-hydroxygluterate (2-HG) product in cells. The decreased supply of alpha-KG or increased accumulation of 2-HG (i.e. metabolic biomarker of mutant IDH1/2 enzyme activity) is considered to be a possible basis for the oncogenic properties of IDH mutants.