Pathophysiology
The pathologic basis for this disease is unknown. However, essential thrombocythemia resembles polycythemia vera in that cells of the megakaryocytic series are more sensitive to growth factors. Platelets derived from the abnormal megakaryocytes do not function properly, which contributes to the clinical features of bleeding and thrombosis. A mutation in the JAK2 kinase (V617F) has been found to be associated with essential thrombocythemia in around 40–50% of cases. About 3–4% of such cases go on to develop acute leukemia. JAK2 is a member of the Janus kinase family. This mutation may be helpful in making a diagnosis or as a target for future therapy.
Read more about this topic: Essential Thrombocytosis