Shen Yiyang, Fu Shuang, Liu Xuan, Liu Jianing, Fu Yu, Zhao Yue, Wang Xinxin, Jiang Xujian, Zhang Jihong
Hematology Laboratory, Shengjing Hospital of China Medical University, Shenyang, China.
Hum Mutat. 2025 Feb 20;2025:7730186. doi: 10.1155/humu/7730186. eCollection 2025.
A great part of studies on the correlation between gene mutations and prognosis in acute myeloid leukemia (AML) patients are based on Western populations. To profile the genomic landscape of AML patients in Northeast China, we retrospectively analyzed the clinical data of 377 newly diagnosed AML patients in Shengjing Hospital of China Medical University from 2016 to 2022 and compared them with data from other populations with different genetic backgrounds. The mutation status of , , , (CCAT enhancer binding protein alpha), , , , (DNA methyltransferase 3A), , , (enhancer of zeste 2), , , , and was acquired by next-generation sequencing (NGS) technology; meanwhile, the clinical data of the patients were collected. The Cox regression model was used to analyze factors affecting patient survival and the impact of and mutation on prognosis, and the results were different from those in other populations. Seventy-seven of 377 patients (20.4%) were detected with mutations, which was higher than the 2%-6% in the Caucasian population. In the patients who did not receive bone marrow transplantation, the prognosis of male patients ( = 18) was significantly better than that of female patients ( = 21) ( = 0.0242). Sixty-three of 377 patients (16.7%) carried the mutation, which was lower than the mutation frequency of 20.9% in the German-Austrian population, and the prognosis of these patients was significantly poorer ( = 0.0052). In addition, the prognostic evaluation value of the mutation in AML patients was not affected regardless of the presence of the and comutation ( > 0.05), nor the mutation site of . In conclusion, for the Northeastern Chinese population, the prognosis of male patients with was more favorable than that of female patients, and the mutation serves as an independent predictor of poor prognosis in AML. These results highlighted the central role of genetic background in precision medicine strategies and further emphasized the importance of the clinical characteristics of AML gene mutations in the Chinese population.
关于急性髓系白血病（AML）患者基因突变与预后相关性的研究很大一部分是基于西方人群开展的。为了剖析中国东北地区AML患者的基因组格局，我们回顾性分析了2016年至2022年在中国医科大学附属盛京医院新诊断的377例AML患者的临床数据，并将其与其他具有不同遗传背景人群的数据进行比较。通过下一代测序（NGS）技术获取了 、 、 、CCAAT增强子结合蛋白α（CCAT enhancer binding protein alpha）、 、 、DNA甲基转移酶3A（DNA methyltransferase 3A）、 、 、zeste 2增强子（enhancer of zeste 2）、 、 、 以及 的突变状态；同时收集了患者的临床数据。采用Cox回归模型分析影响患者生存的因素以及 和 突变对预后的影响，结果与其他人群不同。377例患者中有77例（20.4%）检测到 突变，高于白种人群2% - 6%的比例。在未接受骨髓移植的 患者中，男性患者（ = 18）的预后明显优于女性患者（ = 21）（ = 0.0242）。377例患者中有63例（16.7%）携带 突变，低于德奥人群20.9%的突变频率，且这些患者的预后明显更差（ = 0.0052）。此外，无论是否存在 和 共突变（ > 0.05）， 突变对AML患者预后评估价值均不受影响， 突变位点也不影响其预后评估价值。总之，对于中国东北人群，男性 患者的预后比女性更有利， 突变是AML患者预后不良的独立预测因素。这些结果突出了遗传背景在精准医学策略中的核心作用，并进一步强调了中国人群中AML基因突变临床特征的重要性。
