Prospective serial evaluation of 2-hydroxyglutarate, during treatment of newly diagnosed acute myeloid leukemia, to assess disease activity and therapeutic response

Blood. 2012 Nov 29;120(23):4649-52. doi: 10.1182/blood-2012-06-438267. Epub 2012 Oct 16.

Abstract

Mutations of genes encoding isocitrate dehydrogenase (IDH1 and IDH2) have been recently described in acute myeloid leukemia (AML). Serum and myeloblast samples from patients with IDH-mutant AML contain high levels of the metabolite 2-hydroxyglutarate (2-HG), a product of the altered IDH protein. In this prospective study, we sought to determine whether 2-HG can potentially serve as a noninvasive biomarker of disease burden through serial measurements in patients receiving conventional therapy for newly diagnosed AML. Our data demonstrate that serum, urine, marrow aspirate, and myeloblast 2-HG levels are significantly higher in IDH-mutant patients, with a correlation between baseline serum and urine 2-HG levels. Serum and urine 2-HG, along with IDH1/2-mutant allele burden in marrow, decreased with response to treatment. 2-HG decrease was more rapid with induction chemotherapy compared with DNA-methyltransferase inhibitor therapy. Our data suggest that serum or urine 2-HG may serve as noninvasive biomarkers of disease activity for IDH-mutant AML.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Aged
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use*
  • Azacitidine / administration & dosage
  • Azacitidine / analogs & derivatives
  • Cytarabine / administration & dosage
  • DNA Mutational Analysis
  • Decitabine
  • Female
  • Glutarates / blood
  • Glutarates / metabolism*
  • Glutarates / urine
  • Granulocyte Precursor Cells / metabolism
  • Humans
  • Idarubicin / administration & dosage
  • Isocitrate Dehydrogenase / genetics
  • Isocitrate Dehydrogenase / metabolism
  • Leukemia, Myeloid / drug therapy*
  • Leukemia, Myeloid / genetics
  • Leukemia, Myeloid / metabolism*
  • Male
  • Middle Aged
  • Mutation
  • Prospective Studies
  • Time Factors

Substances

  • Glutarates
  • Cytarabine
  • alpha-hydroxyglutarate
  • Decitabine
  • IDH2 protein, human
  • Isocitrate Dehydrogenase
  • IDH1 protein, human
  • Azacitidine
  • Idarubicin