Genetic Mutations in Patients with Acute Myeloid Leukemia and Their Impact on Prognosis.

This study aimed to analyze the mutant gene profile of patients with acute myeloid leukemia (AML) and discuss the value of genetic mutations in disease prognosis stratification. Clinical data of patients newly diagnosed with AML (excluding acute promyelocytic leukemia, APL), who were admitted to the Department of Hematology of our hospital from October 2018 through October 2023, were analyzed. Bone marrow fluid was collected from patients, and RNA and DNA were extracted. Leukemia fusion genes and myeloid-related gene mutation panels were used for detection. The results of genetic mutations, patients in different age groups and different karyotype groups, were analyzed and compared. A total of 190 newly diagnosed AML patients were included, with a male-to-female ratio of 1:1.06 and a median age of 56 years (range: 8 - 91 years). A total of 357 genetic mutations were detected in 157 patients, among whom 99 (52.1%) had two or more genetic mutations. Genetic mutations (mutation frequency ≥ 10%) were NPM1 (42 cases, 27.45%), FLT3::ITD (34 cases, 22.22%), CEBPA (31 cases, 20.26%), DNMT3A (30 cases, 19.6%), NRAS (24 cases, 15.69%), ASXL1 (23 cases, 15.03%), IDH2 (20 cases, 13.07%), and RUNX1 (17 cases, 11.11%). The most common mutations in males were RUNX1 and ASXL1, in females, it was NPM1. The common mutations in the ≤ 64 years group were NPM1, FLT3::ITD, CEBPA, DNMT3A, NRAS, ASXL1, IDH2, RUNX1, TET2, PTPN11, FLT3, IDH1, TP53, FLT3::TKD, and SRSF2, and in the > 64 years group, it was KIT. According to the cytogenetic prognostic risk stratification, there were 84 patients (44.2%) in the low-risk karyotype group (with a high incidence of CEBPA double mutations), 56 patients (29.5%) in the intermediate-risk karyotype group (with high incidences of NPM1, CEBPA double mutations, FLT3::ITD, TET2, DNMT3A, IDH2, NRAS, IDH1, and PTPN11), and 50 patients (26.3%) in the high-risk karyotype group (with high incidences of RUNX1, ASXL1, NRAS, FLT3::ITD, TP53, CEBPA, DNMT3A, and NPM1). In total, there were 157 cases (82.63%) with genetic mutations (OS: 14.03 months) and 33 cases (17.37%) with no genetic mutations (OS: 17.73 months). There was no statistically significant difference between two groups (p > 0.05). The incidence of genetic mutations varies among AML patients in different age groups and karyotype groups.