Objectives: To explore the clinical features and prognosis of normal karyotype acute myeloid leukemia (NK-AML) pediatric patients with WT1 mutations.Methods: The clinical data and prognostic information of 220 NK-AML pediatric patients were selected from target-AML project of The Cancer Genome Atlas (TCGA) database. Survival analyses were performed for NK-AML pediatric patients with different combinations of mutations.Results: We found that 28(12.7%) NK-AML patients harbored WT1 mutations. The positive rate of FLT3-ITD in the WT1-mutated group was higher than that in the WT1 wild-type group (P = 0.002). In contrast, WT1 mutation and NPM1 mutation were mutually exclusive (P = 0.013). Furthermore, the WT1-mutated group suffered lower rates of complete remission (CR) (P < 0.001 and P < 0.001, respectively) but higher rates of minimal residual disease (MRD) (P = 0.003 and P = 0.021, respectively) after both one and two courses of induction chemotherapy. Patients with WT1 mutations had significantly worse overall survival (OS) and event-free survival (EFS) in both univariate (P < 0.001 and P = 0.007, respectively) and multivariate survival analyses (P < 0.001 and P < 0.001, respectively). The stratification analysis showed that for FLT3-ITD positive patients, WT1 mutations predicted shorter OS (P = 0.003) and EFS (P < 0.001).Conclusion: WT1 mutations conferred an independent poor prognosis for NK-AML pediatric patients.

中文翻译：

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WT1突变的正常核型急性髓细胞白血病小儿患者的临床特征和预后：基于TCGA数据库的分析。

目的：探讨携带WT1突变的正常核型急性髓细胞白血病（NK-AML）患儿的临床特征和预后。方法：从美国国立卫生研究院的目标-AML项目中选择220例NK-AML患儿的临床资料和预后信息。癌症基因组图谱（TCGA）数据库。对具有不同突变组合的NK-AML小儿患者进行了生存分析。结果：我们发现28（12.7％）NK-AML患者具有WT1突变。WT1突变组的FLT3-ITD阳性率高于野生型WT1组（P = 0.002）。相反，WT1突变和NPM1突变是互斥的（P = 0.013）。此外，WT1突变组的完全缓解率（CR）较低（P <0.001和P <0.001，一疗程和两疗程诱导化疗后，其最小残留疾病（MRD）的发生率较高（分别为P = 0.003和P = 0.021）。WT1突变的患者在单变量（分别为P <0.001和P = 0.007）和多变量生存分析（分别为P <0.001和P <0.001）中，总体生存率（OS）和无事件生存率（EFS）明显较差。分层分析显示，对于FLT3-ITD阳性患者，WT1突变预测更短的OS（P = 0.003）和EFS（P <0.001）。结论：WT1突变赋予NK-AML小儿患者独立的不良预后。WT1突变的患者在单变量（分别为P <0.001和P = 0.007）和多变量生存分析（分别为P <0.001和P <0.001）中，其总生存期（OS）和无事件生存期（EFS）明显较差。分层分析显示，对于FLT3-ITD阳性患者，WT1突变预测更短的OS（P = 0.003）和EFS（P <0.001）。结论：WT1突变赋予NK-AML小儿患者独立的不良预后。WT1突变的患者在单变量（分别为P <0.001和P = 0.007）和多变量生存分析（分别为P <0.001和P <0.001）中，其总生存期（OS）和无事件生存期（EFS）明显较差。分层分析显示，对于FLT3-ITD阳性患者，WT1突变预测更短的OS（P = 0.003）和EFS（P <0.001）。结论：WT1突变赋予NK-AML小儿患者独立的不良预后。