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Revista Brasileira de Hematologia e Hemoterapia
On-line version ISSN 1806-0870
MONTE-MOR, Bárbara C. R. and COSTA, Fernando F.. JAK2 V617F mutation and the myeloproliferative disorders. Rev. Bras. Hematol. Hemoter. [online]. 2008, vol.30, n.3, pp. 241-248. ISSN 1806-0870. http://dx.doi.org/10.1590/S1516-84842008000300014.
Myeloproliferative disorders are clonal hematopoietic diseases that are characterized by the amplification of one or more myeloid lineages. Polycythemia vera, essential thrombocythemia, idiopathic myelofibrosis and chronic myeloid leukemia are considered classic myeloproliferative disorders and share common clinical and biological features. While the genetic basis of chronic myeloid leukemia is shown to be the constitutive active protein BCR-ABL, the main molecular lesions in polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis remain unknown. This review focuses on the recent discovery of the JAK2 V617F mutation, its relationship to the myeloproliferative phenotype and implications in the clinical approach of patients.
Keywords : JAK2 V617F; myeloproliferative disorders; polycythemia vera; essential thrombocythemia; idiopathic myelofibrosis.