Abstract
This study investigateswhether serum D-2HG (D-2-hydroxyglutarate) produced by the mutated isocitrate dehydrogenase (IDH) can predict IDH mutations in acute myeloid leukemia (AML) at diagnosis. D-2HG and L-2HG are measured by liquid chromatography-tandem mass spectrometry. D-2HG, total 2HG and the D/L ratio (D-2HG/L-2HG) are significantly higher in IDH mutated cases than in IDH wild cases. The optimal cutoff values to predict IDH mutations at 100% sensitivity (specificity 91%-94%) are>588ng/mL for D-2HG and>2.33 for the D/L ratio. Our study indicates that elevated serum D-2HG and the D/L ratio may serve as noninvasive biomarkers of IDH mutation in AML.
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