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Mutational profile of childhood myeloproliferative neoplasms

Leukemia volume 29, pages 2407–2409 (2015)Cite this article

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Myeloproliferative neoplasms (MPN) are a group of stem cell disorders predominantly occurring in elderly,1 whereas children are affected at much lower frequencies.2 Therefore, less is known about the mutational spectrum and the biology of childhood MPN.3, 4 Lower incidence of JAK2-V617F has been reported in childhood essential thrombocythemia (ET) and polycythemia vera (PV),5, 6 and in recent studies fewer CALR mutations were found in children with ET.7, 8, 9, 10

The clinical and laboratory data of 43 patients with pediatric MPN (age ⩽18 years at diagnosis) that were included in this study are summarized in Table 1. Family history of MPN was negative in all children. The WHO (World Health Organization) 2008 criteria for ET were fulfilled in all 25 cases from whom bone marrow histology was available. To establish the diagnosis of ET in the remaining 16 patients without bone marrow examination, we used the proposed revision of the WHO criteria,11, 12 adjusted for age-specific differences in the normal blood counts.5, 13 Elevated platelet counts (>450 Ă— 109/l) for at least 12 month of follow-up and absence of signs suggesting a reactive or secondary cause were required for ET diagnosis. Data on spleen size were available for 34 patients with ET and splenomegaly was noted in 14 of them (41%). There were 5 hemorrhagic events and 1 transient ischemic attack observed in 5/41 (12%) ET patients. The two PV patients were JAK2-V617F positive, had hematocrit values >50% upon follow-up requiring phlebotomies and both had splenomegaly.

Table 1 Clinical characteristics of the pediatric MPN patients at diagnosis
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Figure 1

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Acknowledgements

We thank Stefan Constantinescu for helpful advice on the candidate mutations in EPOR. This work was funded by grants 310000-120724/1 and 32003BB_135712/1 from the Swiss National Science Foundation and the Swiss Cancer League (KLS-2950-02-2012) to RCS.

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  1. A Karow and R Nienhold: These two authors contributed equally to this work.

Authors and Affiliations

  1. Department of Biomedicine, Experimental Hematology, University Hospital of Basel, Basel, Switzerland

    A Karow, R Nienhold, P Lundberg & R C Skoda

  2. Department of Medicine–DIMED, University of Padua, Padua, Italy

    E Peroni & M L Randi

  3. Department of Pediatric Oncology and Hematology, University of Padua, Padua, Italy

    M C Putti

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  1. A Karow
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Correspondence to R C Skoda.

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Karow, A., Nienhold, R., Lundberg, P. et al. Mutational profile of childhood myeloproliferative neoplasms. Leukemia 29, 2407–2409 (2015). https://doi.org/10.1038/leu.2015.205

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