Gene Mutation Characteristics and Prognostic Significance in Acute Myeloid Leukemia Patients From Northeast China

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 NPM1, FLT3-ITD, FLT3-TKD, CEBPA (CCAT enhancer binding protein alpha), ASXL1, TET2, KIT, DNMT3A (DNA methyltransferase 3A), IDH1, IDH2, EZH2 (enhancer of zeste 2), RUNX1, TP53, NRAS, and GATA2 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 CEBPA and DNMT3A mutation on prognosis, and the results were different from those in other populations. Seventy-seven of 377 patients (20.4%) were detected with CEBPA mutations, which was higher than the 2%–6% in the Caucasian population. In the CEBPA^dm patients who did not receive bone marrow transplantation, the prognosis of male patients (n = 18) was significantly better than that of female patients (n = 21) (p = 0.0242). Sixty-three of 377 patients (16.7%) carried the DNMT3A 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 (p = 0.0052). In addition, the prognostic evaluation value of the DNMT3A mutation in AML patients was not affected regardless of the presence of the NPM1 and FLT3-ITD comutation (p > 0.05), nor the mutation site of DNMT3A. In conclusion, for the Northeastern Chinese population, the prognosis of male patients with CEBPA^dm was more favorable than that of female patients, and the DNMT3A 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.