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Allelic burden of Janus kinase 2 in a 6-month course of therapy for myeloproliferative neoplasms

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Abstract

Background

Janus kinase 2 (JAK2) V617F gene mutation is an important marker for the diagnosis of Philadelphia negative Myeloproliferative neoplasms (MPN) which is subdivided into Polycythemia Vera (PV), Primary Myelofibrosis (PMF), and Essential Thrombocythemia (ET). The aim here is to investigate the JAK2 allele burden of the patients diagnosed with the subgroups of MPN and to demonstrate the alterations of hematological parameters and spleen size between diagnosis and 6 months of treatment.

Methods

A total of 107 patients with the diagnosis of MPN and negative Philadelphia chromosome, 51 males and 56 females with a mean age of 59,74 ± 16,41 years, were included in the study. Diagnosis of MPN was based on the World Health Organization (WHO) criteria. Subgroups of MPN distributed as 49,5% ET, 46,7% PV, and 3,8% PMF. Findings such as the age of the patients, JAK-2 allele burden, and laboratory findings of splenomegaly were examined at the time of diagnosis, 3rd month, and 6th month. JAK2 allele burden and spleen size were re-evaluated in 6th month.

Results

Our study confirmed the findings of high Hb, HCT, and RBC but low platelet values in PV patients with high JAK2 allele burden with respect to other groups, a positive correlation between JAK2 allele burden and LDH.

Conclusions

A novel finding of our study is, that there is not any reducing effect of the phlebotomy on JAK2 allele burden in PV patients whether they receive phlebotomy or not. Evaluation of the spleen size alteration during 6 months within the subgroups demonstrated a decrease in PV and ET groups whereas no statistically significant difference was found in the PMF group.

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Data availability

The data that support the findings of this study are available from the corresponding author, upon reasonable request.

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Acknowledgments

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The authors declare that no funds, grants, or other support were received during the preparation of this manuscript.

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Authors and Affiliations

  1. Faculty of Medicine, Department of Internal Medicine, Hematology Unit, V.M. Medical Park Teaching Hospital, Istanbul Aydin University, Istanbul, Turkey

    Itır Şirinoğlu Demiriz

  2. Faculty of Medicine, Department of Internal Medicine, Bakirkoy Dr. Sadi Konuk Training & Research Hospital, University of Health Sciences, Istanbul, Turkey

    Mehmet Hanifi Kazanci

  3. Faculty of Medicine, Department of Medical Biochemistry, Istanbul Aydin University, Istanbul, Turkey

    Esra Menfaatli & Nosratollah Zarghami

  4. Faculty of Medicine, Department of Clinical Biochemistry and Laboratory Medicine, Tabriz University of Medical Sciences, Tabriz, Iran

    Davoud Jafari-Gharabaghlou

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  1. Itır Şirinoğlu Demiriz
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Contributions

IŞiD, MHK and EM: Writing - original draft preparation. DJ-G: editing. IŞD and NZ: Conceptualization, Supervision.

Corresponding authors

Correspondence to Itır Şirinoğlu Demiriz or Nosratollah Zarghami.

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No potential competing interest was reported by the authors.

Ethical approval

This research protocol was evaluated and approved on 30.01.2020 by Bakırköy Dr. Sadi Konuk Education and Research, Hospital Clinical Researches Ethics Committee.

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Demiriz, I.Ş., Kazanci, M.H., Menfaatli, E. et al. Allelic burden of Janus kinase 2 in a 6-month course of therapy for myeloproliferative neoplasms. Mol Biol Rep 50, 5687–5695 (2023). https://doi.org/10.1007/s11033-023-08511-4

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