The impact of RUNX1 mutations on clinical characteristics, therapeutic efficacy, and prognosis in adults with acute myeloid leukemia
Shi Wenxia1, Guo Yongxin2, Shen Junjie1, Chen Wenming3, Guo Wenwen4, Zhao Tongfeng4, Zhao Dandan4, Chen Jian4, Sun Zhongliang4, Sun Daoping4
1College of Clinical Medicine, Jining Medical University, Jining 272013, China; 2College of Clinical Medicine, Shandong First Medical University & Shandong Academy of Medical Sciences, Taian 271099, China; 3Department of Oncology, 4Department of Hematology, Jining No.1 People′s Hospital, Jining 272011,China
Abstract：ObjectiveTo investigate the effects of Runtrelated transcription factor 1 (RUNX1) gene on clinical characteristics, therapeutic efficacy and prognosis in adults with acute myeloid leukemia (AML). MethodsUsing secondgeneration sequencing technology, 145 newly diagnosed adult AML patients admitted in Department of Hemoatology, Jining No.1 People′s Hospital from April 2017 to October 2021 were found to have 25 AML realted gene mutations, including RUNX1, FLT3, and NPM1. Patients were divided into two groups based on RUNX1 mutation status: RUNX1 mutation (RUNX1mut) and RUNX1 wild type (RUNX1wt). The two groups were compared in terms of age, gender, peripheral blood cell count at initial diagnosis, proportion of bone marrow blasts, FAB typing, cytogenetic stratification, immunotype of AML blasts, co-occurred gene mutation, therapeutic efficiency, and survival. ResultsRUNX1 mutations were found in 15 cases (10.34%). In comparison to the RUNX1wt group (n=130), the patients in the RUNX1mut group (n=15) were older ［（61.00±10.42）years old，（49.92±16.33）years old, t=3.63, P=0.001）］, bone marrow blasts ratios were lower ［34.01（22.60, 45.00）%, 55.91（33.44, 77.95）%, U=827.00, P=0.013］, positive rates of CD15 ［0%(0/15), 26.15%(34/130), P=0.022］ and CD64 ［6.67%(1/15), 39.23%(51/130), χ2=6.20, P=0.013］ were lower, and the number of mutations associated with other genes were higher ［5.00（3.00, 6.00）, 3.00（2.75, 5.00）, U=650.50，P=0.032］. Furthermore, RUNX1 mutation was more likely to be associated with EZH2 mutation ［20.00%（3/15）, 1.54%（2/130）, P=0.008］ and trisomy 8 (+8) abnormal karyotype ［21.43%（3/14）, 3.31%（4/121）, P=0.025］. However, there were no significant differences between the two groups in terms of sex, peripheral blood cell count at initial diagnosis, FAB typing, cytogenetic stratification or inductive therapeutic efficiency (all P＞0.05). Furthermore, RUNX1mut patients had significantly lower 1year overall survival than RUNX1wt patients ［40000%（6/15）, 66015%（86/130）, χ2=3097，P=00046］. ConclusionsRUNX1 mutation is associated with advanced age, lower bone marrow blast ratios, lower expression of CD15 and CD64 on AML blasts, and a higher number of accompanying gene mutations in AML patients. The RUNX1 mutation is more likely to be associated with the EZH2 mutation and the chromosome 8 aberration. Patients with RUNX1 mutations may have a shorter life expectancy and a poor prognosis.
