CAJ | 학술논문

目的探讨BPC及Hb水平轻微升高,但未达真性红细胞增多症(PV)或原发性血小板增多症(ET)诊断标准的患者JAK2V617F及MPLW515L的表达情况与某些临床特征的相关性在早期骨髓增殖性疾病(MPD)中的诊断价值.方法采用等位基因特异性PCR方法,检测30例BPC或Hb值偏高的早期MPD疑似患者JAK2V617F和MPLW515L/K基因表达,并定期随访其病情进展.结果 30例患者中有14例(46.7%)存在JAK2V617F突变,且此14例患者中有5例(35.7%)曾有血栓史;30例患者中无一例存在MPLW515L表达;有效随访22例,JAK2V617F阳性12例,阴性10例,12例阳性患者经过6至24个月后均发展为典型的MPD,而10例阴性患者只有2例发展成MPD.结论 JAK2V617F阳性表达有可能作为诊断早期MPD的重要依据.
목적 탐토BPC급Hb수평경미승고,단미체진성홍세포증다증(PV)혹원발성혈소판증다증(ET)진단표준적환자JAK2V617F급MPLW515L적표체정황여모사림상특정적상관성재조기골수증식성질병(MPD)중적진단개치.방법 채용등위기인특이성PCR방법,검측30례BPC혹Hb치편고적조기MPD의사환자JAK2V617F화MPLW515L/K기인표체,병정기수방기병정진전.결과 30례환자중유14례(46.7%)존재JAK2V617F돌변,차차14례환자중유5례(35.7%)증유혈전사;30례환자중무일례존재MPLW515L표체;유효수방22례,JAK2V617F양성12례,음성10례,12례양성환자경과6지24개월후균발전위전형적MPD,이10례음성환자지유2례발전성MPD.결론 JAK2V617F양성표체유가능작위진단조기MPD적중요의거.
Objective To investigate the prevalence of JAK2V617F and MPLWS15L/K mutation in patients with slightly elevated platelets (BPC) or hemoglobin (Hb) not meeting the criteria of polycythemia vera(PV) or essential thrombocythemia (ET). Methods Genomic DNA from bone marrow or blood mono-nuclear cells was screened with allele specific polymerase chain reaction (AS-PCR) for JAK2V617F and MPLW515L/K mutation. The history of thrombosis was assessed retrospectively by patients files. Results Of 30 patients, 14 (46.7%) were positive for the JAK2V617F mutation, none of them had the MPLW515L/K. Five of these 14 patients had a history of thrombosis. Follow-up results were available in 22 patients.Among them, 12 patients with JAK2V617F mutation turned out to be MPD in 6-24 months; only 2 out of 10 patients without this mutation evolved to MPD. Conclusion JAK2V617F mutation could be one of the diag-nosis criteria of early MPD. No MPLWSI5L/K expression was found in early MPD.