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Blood, 1 June 2006, Vol. 107, No. 11, pp. 4214-4222.
Prepublished online as a Blood First Edition Paper on February 16, 2006; DOI 10.1182/blood-2005-08-3526.
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Submitted August 31, 2005
Accepted October 19, 2005
Molecular basis of the diagnosis and treatment of polycythemia vera and essential thrombocythemia
Andrew I Schafer*
Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
* Corresponding author; email: andrew.schafer{at}uphs.upenn.edu.
Recent insights into the molecular mechanisms of polycythemia vera (PV) and essential thrombocythemia (ET) are challenging the traditional diagnostic classification of these myeloproliferative disorders (MPDs). Clonality analysis using X-chromosome inactivation patterns has revealed apparent heterogeneity among the MPDs. The recently discovered single somatic activating point mutation in the JAK2 gene (JAK2-V617F) is found in the great majority of patients with PV, but also in the minority of patients with ET and other MPDs. In contrast to the acquired MPDs, mutations of the erythropoietin receptor and thrombopoietin receptor have been identified in familial forms of nonclonal erythrocytosis and thrombocytosis, respectively. The mechanisms of major clinical complications of PV and ET remain poorly understood. Quantitative or qualitative abnormalities of red cells and platelets do not provide clear explanations for the thrombotic and bleeding tendency in these MPDs, suggesting the need for entirely new lines of research in this area. Recently reported randomized clinical trials have demonstrated the efficacy and safety of low-dose aspirin in PV; and an excess rate of arterial thrombosis, major bleeding and myelofibrotic transformation, but decreased venous thrombosis, in ET patients treated with anagrelide plus aspirin compared to hydroxyurea plus aspirin.
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