基因组印记是一种调节亲代染色体基因表达的表观遗传机制，在包括造血系统恶性肿瘤在内的多种癌症中具有重要意义。在本研究中，我们检查了 64 名新诊断为细胞遗传学正常的急性髓系白血病 (CN-AML) 患者的骨髓样本中 16 种人类印记基因的表达情况，以及 85 名健康受试者的外周血样本。本研究的验证结果揭示了七个基因的显着上调[COPI外壳复合物亚基γ 2 (COPG2)、H19印记母源表达转录本(H19)、胰岛素样生长因子2 (IGF2)、PEG3反义RNA 1 (PEG3-AS1) CN-AML 患者中 DNA 引物酶亚基 2 (PRIM2)、溶质载体家族 22 成员 3 SLC22A3 和锌指蛋白 215 (ZNF215)] (P<0.001)。值得注意的是，H19 的表达水平与患者的生存时间呈负相关（P=0.018），使其成为 CN-AML 患者两年和五年生存的预测标志物。 Kaplan-Meier 分析表明，与 H19 表达较高的患者相比，H19 表达较低的患者具有更高的两年和五年生存率。本研究的结果强调了 CN-AML 印记丢失与白血病发生之间的关联，强调了 H19 印记丢失作为 CN-AML 患者两年和五年生存不利的预后指标的重要性。版权所有：© Yang等人。

Genomic imprinting, an epigenetic mechanism that regulates gene expression from parental chromosomes, holds substantial relevance in multiple cancers, including hematopoietic malignancies. In the present study, the expression of a panel of 16 human imprinted genes in bone marrow samples from 64 patients newly diagnosed with cytogenetically normal-acute myeloid leukemia (CN-AML) were examined alongside peripheral blood samples from 85 healthy subjects. The validated findings of the present study revealed significant upregulation of seven genes [COPI coat complex subunit gamma 2 (COPG2), H19 imprinted maternally expressed transcript (H19), insulin like growth factor 2 (IGF2), PEG3 antisense RNA 1 (PEG3-AS1), DNA primase subunit 2 (PRIM2), solute carrier family 22 member 3 SLC22A3 and Zinc finger protein 215 (ZNF215)] in patients with CN-AML (P<0.001). Notably, the expression level of H19 exhibited an inverse association with the survival duration of the patients (P=0.018), establishing it as a predictive marker for two- and five-year survival in patients with CN-AML. Kaplan-Meier analysis demonstrated that patients with lower H19 expression had superior two- and five-year survival rates compared with those with higher H19 expression. The results of the present study highlighted the association between loss of imprinting and leukemogenesis in CN-AML, underscoring the significance of H19 imprinting loss as a prognostic indicator for unfavorable two- and five-year survival in CN-AML patients.Copyright: © Yang et al.