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Monte-Mór, Bárbara da Costa Reis; Cunha, Anderson Ferreira da; Pagnano, Kátia Bórgia Barbosa; Saad, Sara Terezinha; Lorand-Metze, Irene; Costa, Fernando Ferreira
Genetics and molecular biology, 03/2007, Letnik: 30, Številka: 2Journal Article
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.
