Hematology (Amsterdam, Netherlands) · 2009
Clinical significance of V617F mutation of the JAK2 gene in patients with chronic myeloproliferative disorders.
СтатьяМногоцентровое исследованиеПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Basquiera Ana L, Soria Néstor W, Ryser Ricardo, Salguero Miriam, Moiraghi Beatriz, Sackmann Federico, Sturich Ana G, Borello Adriana, Berretta Adriana, Bonafé Miriam, Barral José Moreno, Palazzo Emilio D, García Juan J
Аннотация
OBJECTIVE: To determine the prevalence of JAK2 V617F mutation and its clinical correlation in patients with chronic myeloproliferative disorders (CMD): polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF).
MATERIALS AND METHODS: Detection of JAK2 V617F mutation by allele specific-PCR.
RESULTS: One hundred and three patients with CMD were included in the study. JAK2 V617F distribution was PV 40/45 (89%), ET 30/43 (69%), and IMF 7/15 (47%). In PV and ET patients only, 18 had thrombosis at diagnosis and 12 during follow-up (these were microvascular: 11, venous: 7 and arterial: 12); of these 28/70 (40%) were JAK2pos versus 2/18 (11%) JAK2neg; P=0.02. In a median of 4 years, two patients with PV JAK2pos evolved to myelofibrosis and one patient with PV presented in leukemic transformation (JAK2pos before and after transformation); six patients died: four patients with IMF and two patients with PV.
CONCLUSIONS: We found an association between JAK2 V617F and thrombotic events in patients with PV and ET.
MATERIALS AND METHODS: Detection of JAK2 V617F mutation by allele specific-PCR.
RESULTS: One hundred and three patients with CMD were included in the study. JAK2 V617F distribution was PV 40/45 (89%), ET 30/43 (69%), and IMF 7/15 (47%). In PV and ET patients only, 18 had thrombosis at diagnosis and 12 during follow-up (these were microvascular: 11, venous: 7 and arterial: 12); of these 28/70 (40%) were JAK2pos versus 2/18 (11%) JAK2neg; P=0.02. In a median of 4 years, two patients with PV JAK2pos evolved to myelofibrosis and one patient with PV presented in leukemic transformation (JAK2pos before and after transformation); six patients died: four patients with IMF and two patients with PV.
CONCLUSIONS: We found an association between JAK2 V617F and thrombotic events in patients with PV and ET.