JAK2 V617F, hemostatic polymorphisms, and clinical features as risk factors for arterial thrombotic events in essential thrombocythemia

摘要

A recent mutation located in the JAK2 gene, JAK2 V617F,has been shown to play a transcendental role in the constitutive activation of its tyrosine kinase activity in an important number of cases of Philadelphia negative myeloproliferative disorders (Ph-MPDs). This mutation is a useful tool for diagnosing this diseases because different studies show that this mutation is highly frequent in patients with polycythemia vera (PV) and is present in around 50% of the patients with essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF) . Among the clinical features and phenotypes that characterize Ph-MPD patients, thrombotic and hemorrhagic episodes have been shown to be frequent in these patients. Range values for thrombosis at diagnosis fluctuate between 34% to 39% for PV and 10% to 29% for ET . For hemorrhage, the values are much more variable .