NUP98 重排 (NUP98-r) 是罕见的，但在儿科急性髓系白血病 (AML) 患者中发生率过高。 NUP98-r 通常与化疗耐药和特别不良的预后相关。因此，用 NUP98-r 表征儿科 AML 以确定畸变至关重要。在这里，我们回顾性分析了儿科 AML 患者的临床病理学特征、基因组和转录组学概况、治疗和结果。在 9 名患者中发现了 NUP98-r 突变。我们的队列有 142 名患者。在 NUP98-r 患者中检测到 10 个突变基因。携带NUP98-r的组和不携带NUP98-r的组之间FLT3-ITD突变的频率存在显着差异（P = 0.035）。通过 21 名 AML 患者的 RNA 测序数据进行的无监督分层聚类显示，NUP98-r 样本聚集在一起，强烈表明存在不同的亚型。与非NUP98-r融合组和无融合组相比，NUP98-r样本中CMAHP表达显着上调（分别为P < 0.001和P = 0.001）。多变量Cox回归分析表明，携带NUP98-r（P < 0.001）和WT1突变（P = 0.030）的患者无复发生存率较差，携带NUP98-r（P < 0.008）的患者总体生存率较低。这些研究有助于有助于了解儿科 AML 患者的分子特征、风险分层和预后评估。© 2024。作者。

NUP98 rearrangements (NUP98-r) are rare but overrepresented mutations in pediatric acute myeloid leukemia (AML) patients. NUP98-r is often associated with chemotherapy resistance and a particularly poor prognosis. Therefore, characterizing pediatric AML with NUP98-r to identify aberrations is critically important.Here, we retrospectively analyzed the clinicopathological features, genomic and transcriptomic landscapes, treatments, and outcomes of pediatric patients with AML.Nine patients with NUP98-r mutations were identified in our cohort of 142 patients. Ten mutated genes were detected in patients with NUP98-r. The frequency of FLT3-ITD mutations differed significantly between the groups harboring NUP98-r and those without NUP98-r (P = 0.035). Unsupervised hierarchical clustering via RNA sequencing data from 21 AML patients revealed that NUP98-r samples clustered together, strongly suggesting a distinct subtype. Compared with that in the non-NUP98-r fusion and no fusion groups, CMAHP expression was significantly upregulated in the NUP98-r samples (P < 0.001 and P = 0.001, respectively). Multivariate Cox regression analyses demonstrated that patients harboring NUP98-r (P < 0.001) and WT1 mutations (P = 0.030) had worse relapse-free survival, and patients harboring NUP98-r (P < 0.008) presented lower overall survival.These investigations contribute to the understanding of the molecular characteristics, risk stratification, and prognostic evaluation of pediatric AML patients.© 2024. The Author(s).