DNA甲基化是一种表观遗传修饰形式，可调节基因表达。然而，有关急性髓系白血病(AML)中DNA甲基化调节的基因突变(DMRGM)的综合分析数据有限，主要涉及DNA甲基转移酶3α(DNMT3A)、异柠檬酸脱氢酶1(IDH1)、异柠檬酸脱氢酶2(IDH2)和氧化甲基脱氧核苷酸酶2(TET2)。在2016年1月至2019年8月期间，对843名新诊断的非M3型AML患者进行了临床特征和基因突变的回顾性研究。其中29.7% (250/843)的患者出现了DMRGM。DMRGM的特征是年龄较大、白细胞计数、血小板计数较高(P < 0.05)。DMRGM通常与FLT3-ITD、NPM1、FLT3-TKD和RUNX1突变共存(P < 0.05)。DMRGM患者的完全缓解率/不完全缓解率仅为60.3%，显著低于非DMRGM患者(71.0%，P = 0.014)。除了与整体生存(OS)不良相关外，DMRGM还是复发无病生存方面(RFS)的独立危险因素(HR: 1.467, 95% CI: 1.030-2.090，P = 0.034)。此外，随着DMRGM负担的增加，OS也会恶化。DMRGM患者可能会从去甲基化药物中受益，并且通过造血干细胞移植(HSCT)可以克服DMRGM的不良预后。为了进行外部验证，下载了BeatAML数据库，并确认了DMRGM与OS之间的显著关联(P < 0.05)。我们的研究提供了AML患者中DMRGM的概览，其被确定为不良预后的危险因素。©2023年。作者(们)。

DNA methylation is a form of epigenetic modification that regulates gene expression. However, there are limited data on the comprehensive analysis of DNA methylation regulated gene mutations (DMRGM) in acute myeloid leukemia (AML) mainly referring to DNA methyltransferase 3α (DNMT3A), isocitrate dehydrogenase 1 (IDH1), isocitrate dehydrogenase 2 (IDH2), and Tet methylcytidine dioxygenase 2 (TET2).A retrospective study of the clinical characteristics and gene mutations in 843 newly diagnosed non-M3 AML patients was conducted between January 2016 and August 2019. 29.7% (250/843) of patients presented with DMRGM. It was characterized by older age, higher white blood cell count, and higher platelet count (P < 0.05). DMRGM frequently coexisted with FLT3-ITD, NPM1, FLT3-TKD, and RUNX1 mutations (P < 0.05). The CR/CRi rate was only 60.3% in DMRGM patients, significantly lower than in non-DMRGM patients (71.0%, P = 0.014). In addition to being associated with poor overall survival (OS), DMRGM was also an independent risk factor for relapse-free survival (RFS) (HR: 1.467, 95% CI: 1.030-2.090, P = 0.034). Furthermore, OS worsened with an increasing burden of DMRGM. Patients with DMRGM may be benefit from hypomethylating drugs, and the unfavorable prognosis of DMRGM can be overcome by hematopoietic stem cell transplantation (HSCT). For external validation, the BeatAML database was downloaded, and a significant association between DMRGM and OS was confirmed (P < 0.05).Our study provides an overview of DMRGM in AML patients, which was identified as a risk factor for poor prognosis.© 2023. The Author(s).