JAK2V617F mutations in myeloid malignancies: single center experience.
JAK2V617F mutations in myeloid malignancies: single center experience.
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发表时间：
2008-12
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通讯作者：
I. Panovska-Stavridis;L. Cevreska;M. Ivanovski;A. Stojanovik;M. Lozance;N. Matevska;Aleksandar S. Dimovski;Serafimoski
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作者：
I. Panovska-Stavridis;L. Cevreska;M. Ivanovski;A. Stojanovik;M. Lozance;N. Matevska;Aleksandar S. Dimovski;Serafimoski
最近，JAK2酪氨酸激酶基因V617F突变被确定为骨髓增殖的标志，有助于在相当一部分骨髓增生性肿瘤(MPN)中证明克隆性和确定诊断。这一发现是对MPN发病机制认识的重大突破。此外，一些研究表明JAK2V617F突变可能在某些特定的急性髓系白血病(AML)亚型的发病机制中起作用。为了进一步了解JAK2V617F突变在髓系恶性肿瘤发病机制和临床病程中的作用，我们对192例不同类型的MPN和AML患者进行了JAK2V617F突变筛查，并分析了JAK2V617F突变与MPNS患者临床特征的可能关联。采用等位基因特异性聚合酶链式反应分析V617F JAK2突变频率。在153例确诊或疑似MPNS的病例中，JAK2V617F突变阳性100例(65.3%)，阴性53例(34.7%)。在39例AML患者中，突变等位基因V617F无表达。两组JAK2-V617F不同MPNS患者诊断时的临床特征和远期预后的相关性显示，除血栓病史的发生率外，所有检测参数均具有可比性。有突变的患者血栓并发症发生率(38.5%)显著高于无突变的患者(19.2%)(P<；0.005)。我们的结果证实了JAK2V617F突变在MPNS中的诊断意义，并支持该突变的患者应被归类为MPNS的新实体的观点。
Recently, V617F mutation in JAK2 tyrosine kinase gene was established as a marker of myeloproliferation, useful for proving clonality and securing diagnosis in a considerable proportion of the myeloproliferative neoplasms (MPN) The discovery presents a major breakthrough in the understanding of the pathogenesis of the MPN. Moreover, some studies suggest a possible role of the JAK2V617F mutation in the pathogenesis of some specific acute myeloid leukemia (AML) subtypes. To further improve the understanding of the role of JAK2V617F mutations in the pathogenesis and the clinical course of the myeloid malignancies we screened 192 patients with various MPN and AML for the mutations and analyzed the possible association between JAK2V617F mutations and the clinical features of MPNs patients. The frequency of V617F JAK2 mutation was analyzed by theallele-specific PCR assay. Out of 153 cases with known or suspected diagnoses of MPNs, 100 (65.3%) were positive for the JAK2V617F mutation and 53 (34.7%) were negative. In 39 AML cases the mutant allele V617F was not expressed. Correlations of the clinical features at diagnosis and long-term prognosis between the two JAK2-V617F different MPNs groups revealed comparability regarding all tested parameters except for the incidence of thrombotic history. Patients with the mutation had significantly higher incidence of thrombotic complication (38.5%), compared to the group without the mutation (19.2%) (P < 0.005). Our results confirmed the diagnostic significance of JAK2V617F mutation in MPNs and supported the notion that patients with the mutation should be classified in a new entity of MPNs.