Abstract：
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.
摘要：
了解急性髓细胞性白血病（AML）的潜在机制导致了新的生物标志物的发现，以帮助预测，治疗和监测白血病。DNA（胞嘧啶-5）-甲基转移酶3A（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标。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的种族和国家不同。同样，其预后影响在众多研究中有所不同。然而，据报道,R882突变与NPM1和FLT3的同时发生频率更高,并且与预后较差相关.这些研究还提出了关于骨髓移植反应作为治疗的不同结果，虽然化疗耐药是一个决定性的结果。这些发现强调了对R882突变在AML患者中的意义进行深入讨论的关键需求。了解它对白血病转化的影响，预后,治疗对于推进临床意义至关重要。
