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首页> 外文期刊>Balkan journal of medical genetics: BJMG >Evaluation of the JAK2V617F mutational burden in patients with philadelphia chromosome negative myeloproliferative neoplasms: A single-center experience
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Evaluation of the JAK2V617F mutational burden in patients with philadelphia chromosome negative myeloproliferative neoplasms: A single-center experience

机译：jak2v617f对费城染色体阴性阴性瘤瘤患者的突变负担评估：单中心体验

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The identification of the JAK2V617F mutation in several distinct myeloproliferative neoplasms (MPNs) raised the question how one single mutation incites expression of at least three different clinical phenotypes, i.e., polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). In order to further evaluate already published data on the correlation between mutant JAK2V617F allele burden and specific hematological and clinical parameters, we tested the level of the JAK2 mutation in 134 JAK2+ patients with different MPNs. The patients were diagnosed according to the 2008 WHO criteria and followed for a median of 48 months. The JAK2 V617F quantification was done with a real time polymerase chain reaction (real time-PCR) method. The median allele burden was lowest in ET (25.8%), followed by 34.6% in PV and 51.8% in PMF patients (p0.01). There was statistically significant association between the mutational load of 10.0-50.0% and blood count parameters in the PV patients (p0.05). In PMF patients the mutational load was in correlation with older age and leukocyte count that were higher in patients with the mutational load of 10.0-50.0% and 50.0% compared to those with a mutational load of 10.0%. There were no statistically significant associations between the allele burden and blood counts in the ET cohort. Our study confirmed an association between the JAK2V617F allele burden and the distinct MPN phenotypes, indicating unfavorable prognosis in patients with a higher JAK2 allele burden. Our results suggest that JAK2 quantification should be incorporated in the diagnostic work-up of MPN patients as a useful tool for optimal treatment decision.
机译：鉴定JAK2V617F突变在几种不同的髓酚肿瘤（MPN）中提出了一个单一突变煽动至少三种不同临床表型的表达，即多胆血症Vera（PV），基本血小板（ET）和原发性骨髓纤维化（PMF）表达的问题。为了进一步评估已经公布的关于突变体JAK2V617F等位基因负荷和特异性血液学和临床参数之间的相关性的相关数据，我们测试了134名JAK2 +患者的jak2突变水平，不同的MPN。根据2008年谁诊断患者，谁是谁标准，并遵循48个月的中位数。 JAK2 V617F定量用实时聚合酶链反应（实时PCR）方法进行。等位基因的等位基因负担在ET（25.8％）中最低，其次在PV患者中的34.6％和51.8％（P <0.01）。在PV患者中有10.0-50.0％的突变载荷和血液计数参数之间存在统计学上显着的关联（P <0.05）。在PMF患者中，突变载荷与较老年龄和白细胞计数相关，突变载荷为10.0-50.0％和> 50.0％的患者，与具有<10.0％的突变载荷相比。等位基因负担与ET队列中的血液计数之间没有统计学意义的关联。我们的研究证实了JAK2V617F等位基因负担与明显的MPN表型之间的关联，表明jak2等位基因负担较高的患者的不利预后。我们的研究结果表明，JAK2量化应纳入MPN患者的诊断处理中作为最佳治疗决策的有用工具。

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