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IDH1 and IDH2 mutations in therapy-related myelodysplastic syndrome and acute myeloid leukemia are associated with a normal karyotype and with der(1;7)(q10;p10)

Leukemia volume 27, pages 957–959 (2013)Cite this article

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Mechanisms associated with epigenetic regulation have recently been shown to be implicated in the pathogenesis of acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). For instance, mutations of the isocitrate dehydrogenase gene (IDH) have a role in AML and other types of cancer through altered cellular respiration.1 IDH1 at chromosome band 2q33.3 and IDH2 at 15q26.1 encode metabolic enzymes active in the tricarboxylic cycle catalyzing the oxidative decarboxylation of isocitrate into α-ketoglutarate. Gain-of-function mutations of IDH1 and IDH2 leads to the production and accumulation of 2-hydroxyglutarate, which in turn causes disturbed gene expression profiles through dysregulated epigenetic function.1

Recurrent mutations of IDH1 and IDH2 have been reported in 5–15% of patients with de novo AML.2, 3, 4, 5 Mutated IDH strongly associates with a normal karyotype2, 6 in AML and with trisomy 8 in AML and MDS in a few studies.3, 7 IDH1 and IDH2 mutations are common in patients with mutations of the nucleophosmin gene (NPM1),2, 6 the runt-related transcription factor 1 gene (RUNX1)8 and the mixed-lineage leukemia gene (MLL-PTD).6

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Authors and Affiliations

  1. Department of Clinical Genetics, Section of Hematology/Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark

    M K Westman, J Pedersen-Bjergaard, M T Andersen & M K Andersen

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  1. M K Westman
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Correspondence to M K Westman.

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Westman, M., Pedersen-Bjergaard, J., Andersen, M. et al. IDH1 and IDH2 mutations in therapy-related myelodysplastic syndrome and acute myeloid leukemia are associated with a normal karyotype and with der(1;7)(q10;p10). Leukemia 27, 957–959 (2013). https://doi.org/10.1038/leu.2012.347

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