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IDH mutations and trisomy 8 in myelodysplastic syndromes and acute myeloid leukemia

Leukemia volume 24, pages 2120–2122 (2010)Cite this article

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Mutations of isocitrate dehydrogenase 1 (IDH1 located on chromosome 2q33.3) and IDH2 (located on chromosome 15q26.1) were first described in low-grade gliomas/secondary glioblastomas with a remarkable mutational frequency of ∼70%.1 IDH1 and IDH2 mutations have since been described in acute and chronic myeloid malignancies, albeit at a much lower mutational frequency:2 approximately 1% in essential thrombocythemia (ET), 2% in polycythemia vera (PV), 1% in post-PV/ET myelofibrosis, 4% in primary myelofibrosis, 4% in myelodysplastic syndromes (MDS), 15% in acute myeloid leukemia (AML), 15% in post-MDS AML, 22% in post-MPN AML and 22% in higher-risk MDS or AML associated with isolated 5q-.3, 4, 5, 6, 7 In AML, IDH mutations were significantly associated with normal karyotype, NPM1 mutations and isolated trisomy 8.8

Trisomy 8 is the most common among sole cytogenetic abnormalities in both AML and MDS with respective incidences of 6 and 11%.9 In both AML and MDS, trisomy 8 is listed under ‘intermediate-risk cytogenetic group’. Little is known about the pathogenetic effect of trisomy 8 in myeloid malignancies. In the very first report published on IDH mutations in AML,10 13 of the 16 IDH1 mutations detected were associated with normal karyotype, 2 with trisomy 8 and 1 with trisomy 13. In a subsequent study,8 20 of 26 IDH1 mutations detected were associated with a normal karyotype, 3 with trisomy 8 and 3 with other abnormalities. Trisomy 8 was also recurrent in patients with IDH1/IDH2-mutated post-MDS AML11 but not in their counterparts with post-MPN AML.6 In this study we examined the prevalence and disease distribution of IDH1 and IDH2 mutations in a large (n=157) group of patients with hematologic malignancies and isolated trisomy 8.

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Authors and Affiliations

  1. Cattedra ed UO di Ematologia, Policlinico Universitario di Palermo, Palermo, Italy

    D Caramazza & S Siragusa

  2. Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN, USA

    T L Lasho, C M Finke, N Gangat, D Dingli, A Pardanani & A Tefferi

  3. Division of Cytogenetics, Department of Laboratory Medicine, Mayo Clinic, Rochester, MN, USA

    R A Knudson & R P Ketterling

  4. Division of Hematopathology, Department of Laboratory Medicine, Mayo Clinic, Rochester, MN, USA

    C A Hanson

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  1. D Caramazza
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  2. T L Lasho
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Correspondence to A Tefferi.

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Caramazza, D., Lasho, T., Finke, C. et al. IDH mutations and trisomy 8 in myelodysplastic syndromes and acute myeloid leukemia. Leukemia 24, 2120–2122 (2010). https://doi.org/10.1038/leu.2010.213

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