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首页> 外文期刊>BMC Cancer >The prognostic impact of mutations in spliceosomal genes for myelodysplastic syndrome patients without ring sideroblasts
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The prognostic impact of mutations in spliceosomal genes for myelodysplastic syndrome patients without ring sideroblasts

机译：剪接体基因突变对无环铁粒母细胞的骨髓增生异常综合征患者的预后影响

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Background Mutations in genes that are part of the splicing machinery for myelodysplastic syndromes (MDS), including MDS without ring sideroblasts (RS), have been widely investigated. The effects of these mutations on clinical outcomes have been diverse and contrasting. Methods We examined a cohort of 129 de novo MDS patients, who did not harbor RS, for mutations affecting three spliceosomal genes ( SF3B1 , U2AF1 , and SRSF2 ). Results The mutation rates of SF3B1 , U2AF1 , and SRSF2 were 7.0?%, 7.8?%, and 10.1?%, respectively. Compared with previously reported results, these rates were relatively infrequent. The SRSF2 mutation strongly correlated with old age ( P Conclusion Our findings suggest that the frequencies of the SF3B1 , U2AF1 , and SRSF2 splicing gene mutations in MDS without RS were relatively low. We also demonstrated that the U2AF1 and SRSF2 mutations were associated with an unfavorable prognostic impact in MDS patients without RS.
机译：背景技术已经广泛研究了包括增生无环铁粒母细胞（RS）在内的骨髓增生异常综合症（MDS）剪接机制的一部分基因中的突变。这些突变对临床结果的影响是多种多样的，并且是相反的。方法我们检查了129位没有RS的从头开始治疗的MDS患者队列，这些突变影响了三个剪接体基因（SF3B1，U2AF1和SRSF2）。结果SF3B1，U2AF1和SRSF2的突变率分别为7.0％，7.8％和10.1％。与以前报告的结果相比，这些比率相对较少。 SRSF2突变与老年密切相关（P结论我们的发现表明，没有RS的MDS中SF3B1，U2AF1和SRSF2剪接基因突变的频率相对较低。我们还证明了U2AF1和SRSF2突变与不良基因有关。无RS的MDS患者的预后影响。

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