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JAK2V617F allele burden, JAK2 46/1 haplotype and clinical features of Chinese with myeloproliferative neoplasms

Leukemia volume 27, pages 1763–1767 (2013)Cite this article

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Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are clonal myeloproliferative neoplasms (MPNs) with a high frequency of the 1849G>T mutation in JAK2 referred to as JAK2V617F. How this mutation gives rise to different clinical phenotypes with diverse prognoses is unknown. Expression of JAK2V617F in genetically modified mice correlates with disease features.1 Some data in humans support this notion.2, 3, 4 Other mutations, including those in JAK2 exon-12, TET2, MPL, EZH2 and ASXL1 occurs at varying frequency5 in persons with MPNs Whether these mutations correlate with disease phenotype and/or prognosis is unknown.

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Acknowledgements

This study was supported in part by National Natural Science Funds (No. 81070403,No. 81270585), Tianjin Key Natural Science Funds (12JCZDJC23900), National Public Health Grand Research Foundation (No.201202017) and National Science and Technology Major Project (2011ZX09302-007-04)(to ZX). NCPC and AVJ were supported by Leukemia and Lymphoma Research (UK) and the Kay Kendall Leukemia Fund. RPG acknowledges support from the NIHR Biomedical Research Center funding scheme.

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Author notes

  1. J Wang, Z Xu and L Liu: These authors contributed equally to this work.

Authors and Affiliations

  1. MDS and MPN Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China

    J Wang, Z Xu, L Liu, T Qin, J Xu, T Zhang, X Sun, Y Zhang & Z Xiao

  2. Division of Experimental Medicine, Department of Medicine, Haematology Section, Imperial College, London, UK

    R P Gale

  3. Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK

    N C P Cross & A V Jones

  4. Faculty of Medicine, University of Southampton, Southampton, UK

    N C P Cross & A V Jones

  5. Molecular diagnostic laboratory, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China

    X Ai & Q Li

  6. Department of Pathology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China

    P Zhang

  7. Department of Pathology, State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China

    Y Zhang & Z Xiao

Authors
  1. J Wang
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Corresponding author

Correspondence to Z Xiao.

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Competing interests

RPG is a part-time employee of Celgene Corp., Summit, NJ. All other authors declare no conflict of interest.

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Supplementary Information accompanies the paper on the Leukemia website

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Wang, J., Xu, Z., Liu, L. et al. JAK2V617F allele burden, JAK2 46/1 haplotype and clinical features of Chinese with myeloproliferative neoplasms. Leukemia 27, 1763–1767 (2013). https://doi.org/10.1038/leu.2013.21

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