了解急性髓系白血病 (AML) 的潜在机制有助于发现新的生物标志物，以帮助预测、治疗和监测白血病。 DNA (胞嘧啶-5)-甲基转移酶 3 A (DNMT3A) 被认为是具有 R882 热点突变的 AML 患者的预后和治疗表观遗传靶点。 R882 突变与骨髓中造血干细胞分化受损和疾病进展相关。 R882 突变的患病率在不同种族和国家中存在差异，同样，其对预后的影响在众多研究中也存在差异。然而，R882 突变与 NPM1 和 FLT3 共现的报道更为频繁，并且与较差的预后相关。这些研究还表明，骨髓移植反应作为一种治疗方法有不同的结果，而化疗耐药则是最终的结果。这些研究结果凸显了深入讨论 R882 突变在 AML 患者中的重要性的迫切需要。了解其对白血病转化、预后和治疗的影响对于推进临床意义至关重要。© 2024。作者获得 Springer-Verlag GmbH 德国（Springer Nature 旗下公司）的独家许可。

Understanding the underlying mechanism of acute myeloid leukemia (AML) has led to the discovery of novel biomarkers to help predict, treat and monitor leukemia. DNA (cytosine-5)-methyltransferase 3 A (DNMT3A) is considered a prognostic and therapeutic epigenetic target in AML patients with a hotspot mutation of R882. R882 mutation is associated with impaired differentiation of Hematopoietic stem cells in the bone marrow and disease progression. The prevalence of R882 mutation varied in different ethnicities and countries, and similarly, its prognostic impact differed among numerous studies. Nevertheless, the co-occurrence of mutations in R882 with NPM1 and FLT3 has been reported more frequently and is associated with a worse prognosis. These studies also suggest diverse results regarding bone marrow transplantation response as a treatment, while chemoresistance is reached as a conclusive outcome These findings highlight the crucial need for an in-depth discussion on the significance of the R882 mutation in AML patients. Understanding its impact on leukemic transformation, prognosis, and treatment is vital for advancing clinical implications.© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.