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Concurrent JAK2(V617F) mutation and BCR-ABL translocation within committed myeloid progenitors in myelofibrosis

Leukemia volume 21, pages 1824–1826 (2007)Cite this article

Myeloproliferative disorders (MPD) such as polycythemia vera (PV), essential thrombocythemia (ET) and chronic idiopathic myelofibrosis (CIMF) are clonal hematopoietic diseases with clinical similarities. By definition, these diseases have been separated from Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML) requiring negativity for the BCR-ABL transcript in PCR studies of bone marrow or peripheral blood.1 Although the clonal origin of Ph-negative MPD has been proven, no significant recurring molecular pathology with diagnostic relevance could be described until recently. Several groups independently discovered a gain of function mutation of the Janus kinase 2 (JAK2) gene in Ph-negative MPD.2, 3, 4 This mutation has been associated with the proliferation of clonogenic progenitors independently of exogenous cytokine stimulation.2 In addition, recent data point to the fact that the trafficking and constitutive activation of CD34 progenitors can be correlated with the JAK2 mutation status and the relative level of its expression.5 Most systematic investigations showed that the JAK2 mutation and a BCR-ABL translocation were virtually exclusive and their coexistence was reported in one individual with CML, so far.6, 7

We report a patient with CIMF in whom a BCR-ABL translocation could be found concurrently with a heterozygous JAK2(V617F) mutation. In vitro investigations suggest that the BCR-ABL translocation occurred as a secondary event restricted to the myeloid lineage but not within the stem cell compartment.

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Acknowledgements

We thank Anja Maiwald, Verona Schwarze, Jeanette Mundt, Ulrike Fitze, Marika Karger, Manuela Neumann and Cornelia Große for excellent technical assistance. Michelle Meredyth-Stewart is acknowledged for proofreading of this paper. This work was supported in part by the Deutsche Krebshilfe grant 70-2755 (MB and CT) and the Deutsche Forschungsgemeinschaft SFB 655 (MB, GE and CT).

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  1. Med Klinik und Poliklinik I, University Hospital Carl Gustav Carus, Fetscherstrasse, Dresden, Germany

    M Bornhäuser, B Mohr, U Oelschlaegel, P Bornhäuser, S Jacki, G Ehninger & C Thiede

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Correspondence to M Bornhäuser.

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Bornhäuser, M., Mohr, B., Oelschlaegel, U. et al. Concurrent JAK2(V617F) mutation and BCR-ABL translocation within committed myeloid progenitors in myelofibrosis. Leukemia 21, 1824–1826 (2007). https://doi.org/10.1038/sj.leu.2404730

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