JAK2 V617F prevalence in Brazilian patients with polycythemia vera, idiopathic myelofibrosis and essential thrombocythemia

• Autor(a) principal: Monte-Mór,Bárbara da Costa Reis
• Data de Publicação: 2007
• Outros Autores: Cunha,Anderson Ferreira da, Pagnano,Kátia Bórgia Barbosa, Saad,Sara Terezinha, Lorand-Metze,Irene, Costa,Fernando Ferreira
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Genetics and Molecular Biology
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000300006
• topic: JAK2 V617F; myeloproliferative disorders; polycythemia vera; idiopathic myelofibrosis; essential thrombocythemia

Polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF) are myeloproliferative disorders (MPD) that arise from the clonal proliferation of a pluripotent hematopoietic progenitor, leading to the overproduction of one or more myeloid lineages. Recently, a specific mutation in the JAK2 gene, which encodes a tyrosine kinase, has been shown to be associated with the myeloproliferative phenotype observed in PV, ET and IMF. In this study of Brazilian patients, the JAK2 V617F mutation [c.1887G > T) was detected in four out of 49 patients with PV (96%), 14 out of 25 patients with IMF (56%), and in eight out of 29 patients with ET, which is in accordance with previous screenings of this mutation in other populations.