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Prognostic significance of ASXL1 JAK2V617F mutations and JAK2V617F allele burden in Philadelphia-negative myeloproliferative neoplasms

机译:费城阴性骨髓增生性肿瘤中ASXL1JAK2V617F突变和JAK2V617F等位基因负荷的预后意义

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摘要

BackgroundDespite insights into the genetic basis of Philadelphia-negative myeloproliferative neoplasms (Ph-negative MPNs), a significant proportion of essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients present with no known MPN disease alleles. There were no previous studies investigating the impact of ASXL1 mutations in Ph-negative MPNs in Turkey. In the current study, we investigated the prognostic significance of ASXL1 mutations in Turkish MPN patients. We also aimed to determine the prognostic significance of JAK2V617F allele burden and the relationship of JAK2V617F mutation with ASXL1 mutations in Ph-negative MPNs.
机译:背景尽管对费城阴性骨髓增生性肿瘤(Ph阴性MPN),大量原发性血小板增多症(ET)和原发性骨髓纤维化(PMF)患者的遗传基础有深入的了解,但尚无已知的MPN疾病等位基因。以前没有研究调查在土耳其Ph阴性MPN中ASXL1突变的影响。在本研究中,我们调查了土耳其MPN患者中ASXL1突变的预后意义。我们还旨在确定JAK2V617F等位基因负担的预后意义以及Ph阴性MPN中JAK2V617F突变与ASXL1突变的关系。

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