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The JAK2 V617F mutation is rare in RARS but common in RARS-T

Leukemia volume 20, pages 2060–2061 (2006)Cite this article

In the majority of patients the distinction between myelodysplastic syndromes (MDSs) and chronic myeloprololiferative disorders is made relatively easily by assessment of clinical, laboratory and morphological characteristics of the peripheral blood and bone marrow. However, the existence of uni- or mulitlineage dysplasia and hyperplastic myelopoiesis in the same patient is well recognized and classified by the World Health Organization (WHO) as myelodysplastic/myeloproliferative disease, unclassifiable.1 Within this group is a provisional entry referred to as refractory anaemia with ringed sideroblasts associated with marked thrombocytosis (platelets >600 × 109/l) (RARS-T).1

The relationship between dysplasia and the proliferation is not entirely clear, but the recent discovery of a single somatic point mutation in the pseudokinase domain of the Janus kinase 2 (JAK2) resulting in a codon change V617F represents a potential major breakthrough in the pathogenesis of myeloproliferation. Mutation at this site results in the constitutive activation of the JAK2 kinase and thus the activation of the JAK2 pathway. This mutation is present in the majority (>95%) of patients with polycythaemia vera and approximately half of those with primary thrombocythaemia and myelofibrosis2 and others. We have recently reported a high incidence (61%) of the V617F mutation in patients with Budd Chiari syndrome who lack features of a frank proliferative disorder.3

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Acknowledgements

W Ingram is supported by the Leukaemia Research Fund, UK.

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  1. M M Ceesay and N C Lea: These authors contributed equally to this work

Authors and Affiliations

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

    M M Ceesay, N C Lea, W Ingram, N B Westwood, J Gäken, A Mohamedali & G J Mufti

  2. The servicio de Hematologia y Hemoterapia, Hospital Universitario La Fe, Valencia, Spain

    J Cervera, Z Garcia-Casado & G Sanz

  3. Department of Haematology, Oncology and Clinical Immunology, Heinrich-Heine-University, Düsseldorf, Germany

    U Germing & N Gattermann

  4. Department of Oncology and Clinical Immunology, St-Johannes-Hospital, Duisburg, Germany

    A Giagounidis

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  1. M M Ceesay
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  2. N C Lea
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Ceesay, M., Lea, N., Ingram, W. et al. The JAK2 V617F mutation is rare in RARS but common in RARS-T. Leukemia 20, 2060–2061 (2006). https://doi.org/10.1038/sj.leu.2404373

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