RRML - Clinical, laboratory and molecular features in essential thrombocythemia

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Nr. 19(2)/2011

Clinical, laboratory and molecular features in essential thrombocythemia

Laura G. Urian, Adrian P. Trifa, Ljubomir Petrov, Mariana Paţiu

Abstract:

Essential thrombocyhtemia is a BCR-ABL negative myeloproliferative disorder (MPD) distinct from polycytemia vera and idiopathic myelofibrosis and characterized by persistent thrombocytosis, excessive proliferation of megakariocytes in the bone marrow, normal erythrocytic mass and the absence of prominent bone marrow fibrosis. In the last few years new information on pathogenesis of myeloproliferative disorders became available: the discovery of an acquired recurrent molecular abnormality in the 14th exon of the JAK2V617F gene resulting in a substitution of valine for phenylalanine at position 617 in the JAK2 protein (V617). We analyzed the recently identified JAK2V617F mutational status, the relevance of mutated allele burden for clinical presentation, thrombosis and hemorrhagic complications.

Keywords: essential thrombocytemia,mutation JAK2 V617F,thrombosis and hemorrhagic complications

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Urian LG, Trifa AP, Petrov L, Paţiu M. Clinical, laboratory and molecular features in essential thrombocythemia. Rev Romana Med Lab. 2011;19(2):129-38