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

Genetics and Molecular Biology

Bárbara Da Costa Reis Monte-mór¹  Anderson Ferreira Da Cunha¹  Kátia Bórgia Barbosa Pagnano¹  Sara Terezinha Saad¹  Irene Lorand-metze¹  Fernando Ferreira Costa¹ 

[1] ,Universidade Estadual de Campinas Faculdade de Ciências Médicas Centro de Hematologia e HemoterapiaCampinas SP ,Brasil

关键词: JAK2 V617F;    myeloproliferative disorders;    polycythemia vera;    idiopathic myelofibrosis;    essential thrombocythemia;   

DOI  :  10.1590/S1415-47572007000300006

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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