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Quantitative assessment of the JAK2 V617F allele burden: equivalent levels in peripheral blood and bone marrow

Leukemia volume 22, pages 194–195 (2008)Cite this article

The detection of the JAK2 V617F mutation has become a key component in the diagnostic procedure in patients suspected of a chronic myeloproliferative disorder. The proportion of patients with polycythemia vera (PV) harboring the mutation is at least 97% with sensitive PCR-based methods, whereas approximately half of the patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF) are JAK2 V617F-positive.1, 2 The source used for DNA or RNA mutation analysis is peripheral blood (PB), mostly granulocytes. It is evident that the JAK2 V617F mutation is detectable also in bone marrow (BM) specimens.3, 4 A growing body of evidence suggests that the JAK2 V617F allele burden and in particular the state of homozygosity in PV has an impact on disease phenotype as regards the degree of elevated hemoglobin levels, pruritus4, 5, 6 leukocytosis,4, 5 microvascular symptoms,4 thrombocytosis, thrombosis, splenomegaly and propensity to develop secondary myelofibrosis.5 Furthermore, the JAK2 V617F allele burden in PB increases from ET over PV to primary myelofibrosis (PMF), which might reflect a biological continuum, the phenotypic presentation in part influenced by the mutant allele burden. However, the size of the JAK2 V617F allele burden varies considerably within a given phenotype, that is in PV ranging from a few percent to almost 100%.4, 7 No clear correlation between disease duration or the need for cytoreductive treatment and JAK2 V617F allele burden has been reported.4, 5 Despite a relatively low allele burden, patients may have a proliferative disease with a need for cytoreductive treatment as well as frequent phlebotomies in patients with PV. Thus, one could speculate that the JAK2 V617F allele burden measured in PB does not reflect the true size of the JAK2 V617F mutant clone, which may account for a larger proportion in the BM.

To date, a correlation between the JAK2 V617F allele burden in PB and BM has not been reported. In the present study, we provide evidence of a highly significant correlation between the JAK2 V617F allele burden as assessed by quantitative real-time PCR (qPCR), measured in unfractionized white blood cells (WBCs) from PB and BM biopsies.

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References

  1. James C, Ugo V, Le Couedic JP, Staerk J, Delhommeau F, Lacout C et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005; 434: 1144–1148.

    Article  CAS  Google Scholar 

  2. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005; 365: 1054–1061.

    Article  CAS  Google Scholar 

  3. Gattenlohner S, Peter C, Bonengel M, Einsele H, Bargou R, Muller-Hermelink HK et al. Detecting the JAK2 V617F mutation in fresh and ‘historic’ blood and bone marrow. Leukemia 2007; 21: 1559–1662.

    Article  Google Scholar 

  4. Tefferi A, Strand JJ, Lasho TL, Knudson RA, Finke CM, Gangat N et al. Bone marrow JAK2V617F allele burden and clinical correlates in polycythemia vera. Leukemia 2007; published online 3 May.

  5. Vannucchi AM, Antonioli E, Guglielmelli P, Rambaldi A, Barosi G, Marchioli R et al. Clinical profile of homozygous JAK2V617F mutation in patients with polycythemia vera or essential thrombocythemia. Blood 2007; Published online 22 March.

  6. Tefferi A, Lasho TL, Schwager SM, Strand JS, Elliott M, Mesa R et al. The clinical phenotype of wild-type, heterozygous, and homozygous JAK2V617F in polycythemia vera. Cancer 2006; 106: 631–635.

    Article  CAS  Google Scholar 

  7. Vannucchi AM, Pancrazzi A, Bogani C, Antonioli E, Guglielmelli P . A quantitative assay for JAK2(V617F) mutation in myeloproliferative disorders by ARMS-PCR and capillary electrophoresis. Leukemia 2006; 20: 1055–1060.

    Article  CAS  Google Scholar 

  8. Larsen TS, Christensen JH, Hasselbalch HC, Pallisgaard N . The JAK2 V617F mutation involves B- and T-lymphocyte lineages in a subgroup of patients with Philadelphia-chromosome negative chronic myeloproliferative disorders. Br J Haematol 2007; 136: 745–751.

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Haematology, Odense University Hospital, Odense, Denmark

    T S Larsen & H C Hasselbalch

  2. Department of Pathology, Odense University Hospital, Odense, Denmark

    T S Larsen, N Pallisgaard & M B Møller

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  1. T S Larsen
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  2. N Pallisgaard
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  4. H C Hasselbalch
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Correspondence to T S Larsen.

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Larsen, T., Pallisgaard, N., Møller, M. et al. Quantitative assessment of the JAK2 V617F allele burden: equivalent levels in peripheral blood and bone marrow. Leukemia 22, 194–195 (2008). https://doi.org/10.1038/sj.leu.2404861

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