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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对费城染色体阴性髓样肿瘤患者的突变致命评估：单中心经验

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The identification of the J AK2 V617F 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., poly-cythemia 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 (pO.Ol). There was statistically significant association between the mutational load of 10.0-50.0% and blood count parameters in the PV patients (p<0.05). 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：在几个不同的骨髓增生性肿瘤（MPN）中鉴定出J AK2 V617F突变，提出了一个问题，即一个突变如何刺激至少三种不同临床表型的表达，即多发性真性红细胞增多症（PV）、原发性血小板增多症（ET）和原发性骨髓纤维化（PMF）。为了进一步评估突变型JAK2V617F等位基因负荷与特定血液学和临床参数之间的相关性，我们检测了134例不同MPN的JAK2+患者的JAK2突变水平。这些患者根据2008年世卫组织的标准进行诊断，平均随访48个月。JAK2 V617F定量采用实时聚合酶链反应（real-time PCR）方法。ET患者的等位基因负荷中位数最低（25.8%），PV患者的等位基因负荷中位数为34.6%，PMF患者的等位基因负荷中位数为51.8%。在PV患者中，10.0-50.0%的突变负荷与血液计数参数之间存在统计学显著相关性（p<0.05）。在PMF患者中，突变负荷与年龄和白细胞计数相关，与突变负荷<10.0%的患者相比，突变负荷为10.0-50.0%和>50.0%的患者的白细胞计数更高。在ET队列中，等位基因负荷和血液计数之间没有统计学意义的相关性。我们的研究证实了JAK2V617F等位基因负荷与不同的MPN表型之间的关联，表明JAK2等位基因负荷较高的患者预后不良。我们的研究结果表明，JAK2定量应该被纳入MPN患者的诊断工作中，作为最佳治疗决策的有用工具。

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