Speletas Matthaios, Katodritou Eirini, Daiou Chrisoula, Mandala Eudokia, Papadakis Emmanouil, Kioumi Anna, Ritis Konstantinos, Korantzis Ioannis
Hematology Department, Papageorgiou General Hospital, Periferiaki Odos Thessalonikis, Thessaloniki, Greece.
Leuk Res. 2007 Aug;31(8):1053-62. doi: 10.1016/j.leukres.2006.09.005. Epub 2006 Oct 12.
Recently, the acquired mutation JAK2-V617F has been described in the majority of patients with myeloproliferative disorders (MPDs). In this study we evaluated its clinical and laboratory correlates in 166 patients with MPDs. The mutation was detected by allele-specific PCR in 119 patients: 81.4% (35/43) of those with polycythemia vera, 69.1% (77/111) of those with essential thrombocythemia and 58.1% (7/12) of those with idiopathic myelofibrosis. The patients carrying the mutation were older (p=0.02) and displayed higher levels of Ht (p<0.01) and Hb (<0.01) and lower erythropoietin levels (p<0.01). Moreover, mutation-positive patients displayed a higher probability of having leucocytosis, splenomegaly and thrombotic events (three-fold, two-fold and two-fold, respectively) than mutation-negative patients. These correlations imply that the JAK2-V617F mutation may be useful for the classification and the management of patients with MPDs.
最近，在大多数骨髓增殖性疾病（MPD）患者中发现了获得性JAK2-V617F突变。在本研究中，我们评估了166例MPD患者中该突变的临床和实验室相关因素。通过等位基因特异性PCR在119例患者中检测到该突变：真性红细胞增多症患者中的81.4%（35/43）、原发性血小板增多症患者中的69.1%（77/111）以及原发性骨髓纤维化患者中的58.1%（7/12）。携带该突变的患者年龄较大（p=0.02），血红蛋白（Ht）水平（p<0.01）和血红蛋白（Hb）水平较高（p<0.01），促红细胞生成素水平较低（p<0.01）。此外，与未突变患者相比，突变阳性患者发生白细胞增多、脾肿大和血栓形成事件的概率更高（分别为三倍、两倍和两倍）。这些相关性表明，JAK2-V617F突变可能有助于MPD患者的分类和管理。
