eJHaem (Aug 2023)

Serum D‐2‐hydroxyglutarate and the ratio of D‐2HG/L‐2HG predict IDH mutation in acute myeloid leukemia

  • Chelsea Zhang,
  • Andrew Chu,
  • Richard Boriack,
  • Robert Collins,
  • Jing Xu,
  • Dwight Oliver,
  • Ruifang Zheng,
  • Dinesh Rakheja,
  • Weina Chen

DOI
https://doi.org/10.1002/jha2.723
Journal volume & issue
Vol. 4, no. 3
pp. 723 – 727

Abstract

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Abstract This study investigates whether 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 IDHmutated cases than in IDHwild cases. The optimal cutoff values to predict IDH mutations at 100% sensitivity (specificity 91%–94%) are >588 ng/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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