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Acute Leukemias

MPLW515L mutation in acute megakaryoblastic leukaemia

Leukemia volume 23, pages 852–855 (2009)Cite this article

Abstract

The thrombopoietin receptor gene (MPL) is expressed in megakaryocytes and exhibits the gain of function point mutation W515K/L in ∼5% of patients with primary myelofibrosis/idiopathic myelofibrosis (PMF) representing one subtype of the chronic myeloproliferative disorders (myeloproliferative neoplasm). A series of primary and secondary acute myeloid leukaemias (AML) with megakaryoblastic phenotype and myelofibrosis unrelated to PMF (n=12) was analysed for the MPLW515K/L mutation by pyrosequencing. In three cases (25%), MPLW515L was found and in two of these a combination with trisomy 21 or the Philadelphia chromosome occurred. None of the secondary AML cases evolving from pre-existing PMF showed MPLW515K/L (n=4). We conclude that MPLW515L occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF.

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Acknowledgements

We thank Ms Sabine Schröter and Ms Anna-Lena Becker for their skilful work in the laboratory.

Research grants: Deutsche Krebshilfe, Dr Mildred Scheel Stiftung 10-2191 (OB, HK), Deutsche Forschungsgemeinschaft – DFG BO 1954/1-1 (OB, HK), Hochschul-interne Leistungsförderung – HiLF 11/07, Medizinische Hochschule Hannover (KH).

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Authors and Affiliations

  1. Institute of Pathology, Hannover Medical School, Hannover, Germany

    K Hussein, O Bock, K Theophile, J Schlue, D Jonigk & H Kreipe

  2. Institute of Pathology, Katholisches Marienkrankenhaus, Hamburg, Germany

    K Schulz-Bischof

  3. Department of Pathology, Karolinska University Hospital, Stockholm, Sweden

    A Porwit

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  1. K Hussein
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  2. O Bock
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Correspondence to H Kreipe.

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Hussein, K., Bock, O., Theophile, K. et al. MPLW515L mutation in acute megakaryoblastic leukaemia. Leukemia 23, 852–855 (2009). https://doi.org/10.1038/leu.2008.371

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