Many studies have confirmed that overexpressed WT1 exists in leukemic cells, especially in AML. However, the immunophenotypic features of this sort of leukemic cells remain to be unclarified. We retrospectively analyzed the immunophenotype of 283 newly diagnosed AML patients with intermediated and poor cytogenetic risk to evaluate the correlation between phenotype and WT1 overexpression. EVI1 transcripts, KMT2A-PTD, FLT3-ITD, and NPM1 mutations were simultaneously assessed. Our results revealed that overexpressed WT1 was significantly associated with the expression of CD117, CD13, and CD123. Besides, leukemic cells with WT1 overexpression also lacked lymphoid and myeloid differentiation-related markers. FAB subtype M2 patients had higher WT1 levels, compared with other FAB subtype. Multivariate analysis was proved that NPM1 mutation, M2 subtype, and the expression of CD123 were independently associated with WT1 overexpression. These indicated that AML with overexpressed WT1 was proliferated and blocked in the early stage of AML development. It presumably provided some clues to detect overexpressed WT1 cells via multiparameter flow cytometry. CD123-targeted drugs might become one of the alternative treatments for patients with WT1 overexpression.

中文翻译：

---

过度表达的WT1在中度和不良细胞遗传学风险的急性髓细胞性白血病中表现出特定的免疫表型。

许多研究已经证实，白血病细胞特别是AML中存在过表达的WT1。但是，这种白血病细胞的免疫表型特征尚不清楚。我们回顾性分析了283例中度和较弱的细胞遗传学风险的新诊断AML患者的免疫表型，以评估表型与WT1过表达之间的相关性。同时评估EVI1转录本，KMT2A-PTD，FLT3-ITD和NPM1突变。我们的结果表明，过表达的WT1与CD117，CD13和CD123的表达显着相关。此外，WT1过表达的白血病细胞也缺乏淋巴样和髓样分化相关的标志物。与其他FAB亚型相比，FAB M2亚型M2患者的WT1水平更高。多变量分析证明NPM1突变，M2亚型，CD123的表达与WT1的过表达独立相关。这些表明具有过量表达的WT1的AML在AML发展的早期阶段被增殖并被阻断。据推测，它为通过多参数流式细胞术检测过表达的WT1细胞提供了一些线索。靶向CD123的药物可能成为WT1过表达患者的替代疗法之一。