Mutations and prognosis in primary myelofibrosis
Mutations and prognosis in primary myelofibrosis
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DOI：
10.1038/leu.2013.119
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发表时间：
2013-09-01
期刊：
影响因子：
11.4
通讯作者：
Tefferi, A.
中科院分区：
文献类型：
--
作者：
Vannucchi, A. M.;Lasho, T. L.;Tefferi, A.
原发性骨髓纤维化(PMF)患者的预后明显受核型的影响。我们研究了879名PMF患者，以确定体细胞突变的个体和组合预后相关性。在483名欧洲患者中进行了分析，并在396名梅奥诊所患者中验证了精液观察。对诊断时收集的欧洲队列样本进行了ASXL1、SRSF2、EZH2、TET2、DNMT3A、CBL、IDH1、IDH2、MPL和JAK2突变分析。其中，ASXL1、SRSF2和EZH2突变相互独立地预测生存期缩短。然而，只有ASXL1突变(HR：2.02；P
Patient outcome in primary myelofibrosis (PMF) is significantly influenced by karyotype. We studied 879 PMF patients to determine the individual and combinatorial prognostic relevance of somatic mutations. Analysis was performed in 483 European patients and the seminal observations were validated in 396 Mayo Clinic patients. Samples from the European cohort, collected at time of diagnosis, were analyzed for mutations in ASXL1, SRSF2, EZH2, TET2, DNMT3A, CBL, IDH1, IDH2, MPL and JAK2. Of these, ASXL1, SRSF2 and EZH2 mutations inter-independently predicted shortened survival. However, only ASXL1 mutations (HR: 2.02; P