CAJ | 학술논문

目的：回顾性研究骨髓增殖性肿瘤（MPN）患者的JAK2V617F突变率，及在有无伴有JAK2V617F突变患者的止凝血功能的改变。方法收集2008年2月至2013年5月我院48例MPN病人进行JAK2V617F突变的检测，并对其患者和正常对照组进行血常规（WBC，RBC和Hb及PLT）、常规出凝血指标（PT、aPTT、Fbg）及止凝血机制分子标志物（GMP-140、TF、TAT、AT、TFPI、PAP、D-D等）的检测。结果（1）在48例MPN患者中，真性红细胞增多症（PV）20例，其中JAK2V617F突变阳性患者16例，占80％。原发性血小板增多症（ET）22例，其中JAK2V617F突变阳性患者12例，占54．5％。特发性骨髓纤维化（PMF）6例，其中 JAK2V617F 突变阳性患者2例，为33．3％。（2）无论患者有无JAK2V617F突变，均存在着血常规和止凝血机制的异常，与正常对照组相比差异有显著性（P＜0．05或P＜0．01）。且有JAK2V617F突变的患者较没有JAK2V617F突变的患者的血常规和止凝血机制的改变更明显一些，二者也有着显著的差异（P＜0．05）。结论真性红细胞增多症（PV）、原发性血小板增多症（ET）及特发性骨髓纤维化（PMF）等Bcr-abl阴性的经典MPN患者中存在着较高的JAK2V617F突变率，并且无论有无JAK2V617F突变均存在着血常规的改变和血液中血小板活化、凝血亢进、抗凝的抑制及纤溶激活等止凝血功能的改变，且在JAK2V617F突变阳性的患者中这些改变更明显。
목적：회고성연구골수증식성종류（MPN）환자적JAK2V617F돌변솔，급재유무반유JAK2V617F돌변환자적지응혈공능적개변。방법수집2008년2월지2013년5월아원48례MPN병인진행JAK2V617F돌변적검측，병대기환자화정상대조조진행혈상규（WBC，RBC화Hb급PLT）、상규출응혈지표（PT、aPTT、Fbg）급지응혈궤제분자표지물（GMP-140、TF、TAT、AT、TFPI、PAP、D-D등）적검측。결과（1）재48례MPN환자중，진성홍세포증다증（PV）20례，기중JAK2V617F돌변양성환자16례，점80％。원발성혈소판증다증（ET）22례，기중JAK2V617F돌변양성환자12례，점54．5％。특발성골수섬유화（PMF）6례，기중 JAK2V617F 돌변양성환자2례，위33．3％。（2）무론환자유무JAK2V617F돌변，균존재착혈상규화지응혈궤제적이상，여정상대조조상비차이유현저성（P＜0．05혹P＜0．01）。차유JAK2V617F돌변적환자교몰유JAK2V617F돌변적환자적혈상규화지응혈궤제적개변경명현일사，이자야유착현저적차이（P＜0．05）。결론진성홍세포증다증（PV）、원발성혈소판증다증（ET）급특발성골수섬유화（PMF）등Bcr-abl음성적경전MPN환자중존재착교고적JAK2V617F돌변솔，병차무론유무JAK2V617F돌변균존재착혈상규적개변화혈액중혈소판활화、응혈항진、항응적억제급섬용격활등지응혈공능적개변，차재JAK2V617F돌변양성적환자중저사개변경명현。
Objective To investigate the frequency of JAK2V617F mutation in patients with myelopro-liferative neoplasma ( MPN) ,and explore the relationship between mutation and haemostatic changes .Methods JAK2V617F mutation were screened among 48 patients with MPN.Complete blood count ,routine haemastat-ic tests,coagulable and fibrinolytic molecular markers were also measured .30 healthy volunteers were enrolled as control.Results JAK2V617F mutation occured in 80%(16/20)of polycythemia vera(PV),54.5%(12/22)of essential thrombocythemia ( ET),and 33.3%(2/6) of primary myelofirosis ( PMF).2.Compared with normal control,alterations of Complete blood count,hemostasis occured in every patients,whether JAK2V617F mutation existed or not ( P<0 .05 or P<0 .01 ) .Furthermore , significant changes were confirmed in patients with mutation than those without mutation (P<0.05).Conclusion JAK2V617F mutation occurs in signifi-cant percentage patients with MPN .Alterations of hemostasis including increased platelet aggregation ,abnormal activation of coagulation cascade ,decreased synthesis of anticoagulant proteins ,abnormal activation of fibrinol-ysis are detected in every patients with MPN ,no matter JAK2V617F mutation exists.However,the changes seems more remarkably in patients with JAK 2V617F mutation.