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Chronic Myeloproliferative Neoplasias

A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications

Leukemia volume 24, pages 1574–1579 (2010)Cite this article

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Abstract

We studied the relationship between JAK2 (V617F) mutant allele burden and clinical phenotype, disease progression and survival in patients with polycythemia vera (PV). The percentage of granulocyte mutant alleles was evaluated using a quantitative real-time polymerase chain reaction-based allelic discrimination assay. Of the 338 patients enrolled in this prospective study, 320 (94.7%) carried the JAK2 (V617F) mutation. Direct relationships were found between mutant allele burden and hemoglobin concentration (P=0.001), white blood cell count (P=0.001), spleen size (P=0.001) and age-adjusted bone marrow cellularity (P=0.002), while an inverse relationship was found with platelet count (P<0.001). During the study period, eight patients progressed to post-PV myelofibrosis (MF) (all carrying >50% mutant alleles), while 10 patients developed acute myeloid leukemia (AML). The mutant allele burden was significantly related to the risk of developing myelofibrosis (P=0.029) and retained its significant effect also in multivariable analysis (P=0.03). By contrast, the risk of developing AML as well as that of thrombosis was not significantly related to mutant allele burden. Leukocytosis did not affect thrombosis, MF, leukemia or survival. In conclusion, a JAK2 (V617F) allele burden >50% represents a risk factor for progression to MF in PV.

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Acknowledgements

This study was supported by Associazione Italiana per la Ricerca sul Cancro (AIRC, Milan) Special Program Molecular Clinical Oncology ″5 per mille″ and by Fondazione Cariplo, Milan, Italy.

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  1. Division of Hematology, Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy

    F Passamonti, E Rumi, D Pietra, C Elena, L Arcaini, E Roncoroni, C Astori, M Merli, S Boggi, C Pascutto, M Lazzarino & M Cazzola

  2. Department of Human Pathology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy

    E Boveri

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Correspondence to F Passamonti.

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Passamonti, F., Rumi, E., Pietra, D. et al. A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications. Leukemia 24, 1574–1579 (2010). https://doi.org/10.1038/leu.2010.148

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