30例早期骨髓增殖性疾病疑似患者JAK2V617F和MPLW515L/K突变基因的表达

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.

Expression of JAK2V617F and MPLWSI5L/K mutation in 30 suspected cases of early myeloproliferarive disorders

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.