The occurrence and development of acute myeloid leukemia (AML) is not only related to gene mutations, but also influenced by abnormal epigenetic regulation, in which DNA methylation is one of the most important mechanisms. Abnormal DNA methylation may lead to the activation of oncogene and the inactivation of tumor suppressor gene, resulting in the occurrence of leukemia. The mutations of DNA methylation enzymes associated with AML may have certain characteristics. The AML with recurrent cytogenetic abnormalities is also related to abnormal methylation. Some fusion genes can alter DNA methylation status to participate in the pathogenesis of leukemia. In addition, chemotherapy drug resistance in patients with AML is associated with the change of gene methylation status. Considering the reversibility of the epigenetic modification, targeted methylation therapy has become a hotspot of AML research.
急性髓细胞白血病（AML）的发生、发展不仅与基因突变相关，亦与异常的表观遗传调控有着密切的联系，其中DNA甲基化是基因组表观遗传修饰的重要机制之一。异常的DNA甲基化可能会引起癌基因的活化以及抑癌基因的失活，导致白血病的发生。与AML相关的DNA甲基化酶突变具有一定的特点，同时AML重现性基因改变与甲基化异常也具有一定的相关性。某些融合基因能够改变DNA甲基化状态，参与白血病的发病。此外，AML患者对化疗耐药也与基因甲基化状态的改变有关。由于表观遗传学修饰具有可逆性，针对其异常的靶向治疗已成为目前研究的热点。