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

AUTOR(ES)

Monte-Mór, Bárbara da Costa Reis, Cunha, Anderson Ferreira da, Pagnano, Kátia Bórgia Barbosa, Saad, Sara Terezinha, Lorand-Metze, Irene, Costa, Fernando Ferreira

FONTE

Genetics and Molecular Biology

DATA DE PUBLICAÇÃO

2007-03

RESUMO

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.

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