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Presence of JAK2 V617F tyrosine kinase mutation as a myeloid-lineage-specific mutation in chronic neutrophilic leukaemia

Leukemia volume 20, pages 1324–1326 (2006)Cite this article

Chronic neutrophilic leukaemia (CNL) is a rare haematological disease of uncertain pathological aetiology. It has been recently defined as a chronic myeloproliferative disorder (CMPD) under the World Health Organization (WHO) classification, and is characterized by a persistent neutrophilia, splenomegaly and bone marrow (BM) hyperplasia.1 Chronic neutrophilic leukaemia is of essence a diagnosis of exclusion, and affected patients have to be distinguished from other CMPD, such as chronic myelogenous leukaemia (CML), chronic myelomonocytic leukaemia and atypical CML. Causes of reactive neutrophilia need to be ruled out, and there should be no cytogenetic or molecular presence of the Philadelphia chromosome.

In the absence of a defining biological or molecular characteristic, the diagnosis of CNL is often challenging, and there have been approximately 150 reported cases in the literature. The overall outcome of these patients is poor, with the main causes of death owing to intracerebral haemorrhage, progressive neutrophilia or blast transformation. In a recent review of 40 cases, Elliot et al.2 reported a median survival of 23.5 months (range: 1–106 months). At present, there is no consensus strategy on the treatment of these patients.

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References

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  1. N C Lea and Z Lim: These authors contributed equally to this work

Authors and Affiliations

  1. Department of Haematological Medicine, Kings College London, London, UK

    N C Lea, Z Lim, N B Westwood, J Gäken, A Mohamedali & G J Mufti

  2. Department of Haematological Medicine, Guy's King's, Thomas’ School of Medicine, Denmark Hill Campus, Kings College Hospital, London, UK

    Z Lim & G J Mufti

  3. Genomics Center, School of Biomedical and Health Sciences, Kings College London, London, UK

    M J Arno

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  1. N C Lea
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  2. Z Lim
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  6. A Mohamedali
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  7. G J Mufti
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Lea, N., Lim, Z., Westwood, N. et al. Presence of JAK2 V617F tyrosine kinase mutation as a myeloid-lineage-specific mutation in chronic neutrophilic leukaemia. Leukemia 20, 1324–1326 (2006). https://doi.org/10.1038/sj.leu.2404240

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