JAK2 MUTATIONAL STATUS: CLINICAL AND LABORATORY CORRELATES IN 104 PATIENTS WITH ESSENTIAL THROMBOCYTHEMIA
Abstract:
The myeloproliferative disorders or neoplasms (MPN) are heterogeneous diseases that occur at the level of a multipotent hematopoietic stem cell. They are characterized by incresed blood cell production and virtually normal cell maturation. Essential thrombocythemia (ET) is currently classified, with polycythemia vera (PV) and agnogenic myeloid metaplasia (AMM) as a classic myeloproliferative neoplasms (MPN) Philadelphia- negative (Ph). ET is characterized by persistent thrombocytosis, excessive proliferation of megakaryocytes in the bone marrow, normal erythrocytic mass and the absence of prominent bone marrow fibrosis. The molecular pathogenesis of the (MPN) has been poorly understood until 2005, when an acquired mutation in JAK2 V617F was reported in around 50% of patients with ET, AMM and the vast majority with PV. Clinical and laboratory associations and the prevalence of the Jak2 V617F mutational status was studied in 104 patients with ET at a single Hematology Department, in Transilvania.
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