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The JAK2 V617F mutation identifies a subgroup of MDS patients with isolated deletion 5q and a proliferative bone marrow

Leukemia volume 20, pages 1319–1321 (2006)Cite this article

The detection of JAK2 V617F somatic mutation has greatly enhanced our understanding of the pathogenesis of the bcr/abl-negative chronic myeloproliferative disorders (MPD). An increased sensitivity to erythropoietin and growth factor independence is reported in the presence of the mutation.1, 2, 3 Four independent groups recently report JAK2 V617F mutation in the majority of patients with polycythaemia vera and up to 50% of essential thrombocythaemia and idiopathic myelofibrosis.1, 2, 3, 4 An increased incidence of thrombosis, haemorrhage and fibrotic transformation in the presence of the mutant allele is reported.3 Larger studies are however required to elicit the true prognostic significance of the mutation.

The finding of JAK2 V617F mutation outside of the classical MPDs is uncommon with reports of low incidence in chronic myelomonocytic leukaemia, atypical chronic myeloid leukaemia, hypereosinophilic syndrome and chronic neutrophilic leukaemia.5 The myelodysplastic syndromes (MDS) are a heterogeneous group of clonal haematopoietic stem cell disorders characterised by peripheral blood cytopenias, ineffective erythropoiesis and increased apoptosis. The 5q− syndrome is a subgroup of MDS characterised by an interstitial deletion of the long arm of chromosome 5(q31–q33) with macrocytic anaemia, normal or elevated platelet count, hypolobated megakaryocytes and associated with a favourable prognosis. However, cases presenting with 5q deletion and marked elevation of the platelet count in association with a hypercellular bone marrow display characteristics more suggestive of an overlap syndrome (MDS/MPD).

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Acknowledgements

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

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  1. W Ingram and N C Lea: These authors contributed equally to this work

Authors and Affiliations

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

    W Ingram, N C Lea, N B Westwood, A Mohamedali, J Gaken, T Kontou, B H Czepulkowski, N A Twine & 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 & E Zipperer

  4. Hematology Department at Hopital Avicenne, Bobigny, France

    P Fenaux, B Cassinat & J J Kiladjian

  5. Third Department of Internal Medicine, Semmelweis University, Budapest, Hungary

    J Varkonyi & S Benedek

  6. Department of Haematology, University Hospital Linköping, Linköping, Sweden

    P Antunovic

  7. Genomics center, School of Biomedical and Health Sciences, Kings College London, London, UK

    M J Arno

  8. National Health Centre, Semmelweis University, Budapest, Hungary

    J Tamaska

  9. Institute of Pathology and Cancer Research, Semmelweis University, Budapest, Hungary

    J Csomer

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

    A Giagounidis

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  1. W Ingram
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Correspondence to G J Mufti.

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Ingram, W., Lea, N., Cervera, J. et al. The JAK2 V617F mutation identifies a subgroup of MDS patients with isolated deletion 5q and a proliferative bone marrow. Leukemia 20, 1319–1321 (2006). https://doi.org/10.1038/sj.leu.2404215

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