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The quantitative JAK2 V617F neutrophil allele burden does not correlate with thrombotic risk in essential thrombocytosis

Leukemia volume 21, pages 2210–2212 (2007)Cite this article

Essential thrombocytosis (ET) is a hematopoietic stem cell disorder characterized uniquely by the overproduction of platelets in the absence of a definable stimulus. Approximately 50% of ET patients express a mutation of the Janus-associated kinase 2 gene (JAK2 V617F).1 These patients also appeared to have a ‘polycythemia vera (PV)-like’ phenotype compared to their JAK2 V617F-negative counterparts.2 However, quantitative analysis of the neutrophil JAK2 V617F allelic burden indicated that ET patients generally have a lower neutrophil JAK2 V617F allele percentage than JAK2 V617F-positive PV or idiopathic myelofibrosis (IMF) patients.3, 4

We, therefore, studied 80 consecutive ET patients to determine whether the quantitative neutrophil JAK2 V617F allele burden in ET is correlated with gender, disease presentation, disease evolution or vascular complications. Patients were prospectively enrolled between 2005 and 2006; blood samples were obtained at the time of clinical assessment, and quantitative JAK2 V617F allele percentages were measured from neutrophil genomic DNA or platelet cDNA, as described previously.3 Median disease duration at the time of phenotypic and genotypic analysis for the entire cohort was 6 years (range 0.5–26 years). Similar to studies with equivalent JAK2 V617F assay sensitivity,1, 5 47% of our patients were JAK2 V617F-positive. Also in keeping with other observations, JAK2 V617F-positive patients were significantly older at diagnosis than JAK2 V617F-negative patients (59 versus 38 years, P⩽0.001).1 Median disease duration of the JAK2 V617F-positive ET patients was also significantly shorter than the JAK2 V617F-negative patients (3 versus 8 years, respectively; P=0.022), although the ranges were similar (Table 1a). JAK2 V617F mutation status also did not correlate with hydroxyurea, anagrelide or interferon-α use (Table 1). While the median hemoglobin concentration was higher in the JAK2 V617-positive group, this did not reach statistical significance when controlled for gender. Similarly, there was no significant difference in the white cell count or platelet count between JAK2 V617-positive and negative patients, nor was there any correlation with a family history of a myelo-proliferative disorder (MPD), which was present in nine JAK2 V617F-positive patients (two male, seven female) and six JAK2 V617F-negative patients (three male, three female).

Table 1 Epidemiological and clinical data in 80 ET patients
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Acknowledgements

This research was supported by a grant from the Myeloproliferative Disorders Foundation and Grants RO1-HL 082995 and PO1-CA108671 from the National Institutes of Health and Grant MPO 48019 from the Department of Defense.

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  1. Hematology Division, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    N Pemmaraju, A R Moliterno, D M Williams, O Rogers & J L Spivak

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Correspondence to J L Spivak.

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Pemmaraju, N., Moliterno, A., Williams, D. et al. The quantitative JAK2 V617F neutrophil allele burden does not correlate with thrombotic risk in essential thrombocytosis. Leukemia 21, 2210–2212 (2007). https://doi.org/10.1038/sj.leu.2404755

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