To explore features and impacts on the prognosis of common gene mutations in acute myeloid leukemia (AML), we assessed mutated status as well as variant allele frequency (VAF) of 24 genes in 81 AML patients by next-generation sequencing (NGS) technology. Eighty-six percentages of patients showed at least one mutation. Mutation in BCOR was associated with lower complete remission (CR) rate, whereas double mutation in CEBPA was associated with a favorable odds ratio for CR achievement. TP53 mutation was associated with inferior overall survival (OS) in univariate analysis. Multivariate analysis confirmed the negative effect of adverse cytogenetic abnormalities on survival. Mutation in RUNX1 and ZRSR2 had negative impacts on OS in patients with wild-type TP53. VAF of SRSF2 mutation was observed negatively correlated with OS. In conclusion, our study suggested that mutations in BCOR and spliceosomes might predict worse outcomes, and VAF of gene mutations may play a crucial role in outcomes of AML patients.

中文翻译：

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急性髓系白血病患者基因突变的特点及对预后的影响。

为了探索急性髓系白血病 (AML) 常见基因突变的特征和对预后的影响，我们通过新一代测序 (NGS) 技术评估了 81 名 AML 患者的 24 个基因的突变状态和变异等位基因频率 (VAF)。86% 的患者显示至少一种突变。BCOR 突变与较低的完全缓解 (CR) 率相关，而 CEBPA 中的双突变与实现 CR 的有利优势比相关。在单变量分析中，TP53 突变与较差的总生存期 (OS) 相关。多变量分析证实了不利的细胞遗传学异常对生存的负面影响。RUNX1 和 ZRSR2 的突变对野生型 TP53 患者的 OS 有负面影响。观察到 SRSF2 突变的 VAF 与 OS 呈负相关。综上所述，