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
Hospital Privado Centro Médico de Córdoba, Córdoba, Argentina.
Hematology. 2009 Dec;14(6):323-30. doi: 10.1179/102453309X12473408860226.
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).
Detection of JAK2 V617F mutation by allele specific-PCR.
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.
We found an association between JAK2 V617F and thrombotic events in patients with PV and ET.
确定慢性骨髓增殖性疾病(CMD)患者中JAK2 V617F突变的患病率及其临床相关性,CMD包括真性红细胞增多症(PV)、原发性血小板增多症(ET)和原发性骨髓纤维化(IMF)。
采用等位基因特异性聚合酶链反应检测JAK2 V617F突变。
103例CMD患者纳入本研究。JAK2 V617F的分布情况为:PV患者40/45(89%),ET患者30/43(69%),IMF患者7/15(47%)。仅在PV和ET患者中,18例在诊断时发生血栓形成,12例在随访期间发生血栓形成(其中微血管血栓形成11例,静脉血栓形成7例,动脉血栓形成12例);在这些患者中,28/70(40%)为JAK2阳性,而2/18(11%)为JAK2阴性;P = 0.02。在中位4年的时间里,2例PV JAK2阳性患者演变为骨髓纤维化,1例PV患者发生白血病转化(转化前后均为JAK2阳性);6例患者死亡:4例IMF患者和2例PV患者。
我们发现PV和ET患者中JAK2 V617F与血栓形成事件之间存在关联。