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JAK2 V617F, MPL, and CALR Mutations in Essential Thrombocythaemia and Major Thrombotic Complications: A Single-Institute Retrospective Analysis

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Pathology & Oncology Research

Abstract

Thrombo-haemorrhagic events are the main cause of morbidity and mortality in essential thrombocythemia. The aim of this study was to estimate the incidence of thrombotic events and the impact of the JAK2V617F, MPL (W515L, W515K, W515R, W515A and S505N) and CALR (type-1, type-2) mutations on 101 essential thrombocythaemia patients (72 females and 29 males with a mean age of 61 years) diagnosed in a Southern Hungarian regional academic centre. The incidence of major thrombosis was 13.86 %. Sixty percent of the patients carried the JAK2V617F mutation. The MPL mutations were analysed by sequencing and the W515L was the only one we could identify with an incidence of 3.96 %. Type-2 CALR mutation could be identified in 3 cases among the patients who had JAK2/MPL-unmutated ET. Statistical analyses revealed that the JAK2V617F mutation was associated with significantly increased levels of platelet (p = 0.042), haemoglobin (p = 0.000), red blood cell (p = 0.000) and haematocrit (p = 0.000) and hepatomegaly (p = 0.045) at diagnosis compared to JAK2V617F negative counterparts, however there was no significant association between the JAK2V617F mutation status (relative risk: 1.297, 95 % CI 0.395–4.258; p = 0.668) and subsequent thrombotic complications. The impact of JAK2V617F, MPL W515L and CALR mutations on the clinical findings at the diagnosis of ET was obvious, but their statistically significant role in the prediction of thrombotic events could not be proven in this study. Our results indirectly support the concept that, besides the quantitative and qualitative changes in the platelets, the mechanisms leading to thrombosis are more complex and multifactorial.

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Acknowledgments

The authors would like to acknowledge the Hungarian National Blood Transfusion Service for the help with laboratory method of the MLP mutation analyses.

Competing Interests

No conflict of interest is reported by the authors.

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Authors and Affiliations

  1. 2nd Department of Internal Medicine and Cardiology Centre, University of Szeged, Korányi fasor 6., H-6720, Szeged, Hungary

    Éva Pósfai, Imelda Marton & Zita Borbényi

  2. Institute of Medical Genetics, University of Szeged, Szeged, Hungary

    Zsuzsanna Kiss-László & Márta Széll

  3. Institute of Economics and Rural Development, University of Szeged, Szeged, Hungary

    Balázs Kotosz

  4. Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged, Szeged, Hungary

    Márta Széll

  5. 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary

    Péter Attila Király

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  1. Éva Pósfai
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Correspondence to Éva Pósfai.

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Pósfai, É., Marton, I., Király, P.A. et al. JAK2 V617F, MPL, and CALR Mutations in Essential Thrombocythaemia and Major Thrombotic Complications: A Single-Institute Retrospective Analysis. Pathol. Oncol. Res. 21, 751–758 (2015). https://doi.org/10.1007/s12253-014-9885-4

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