Gene Mutation Characteristics, Prognosis and Survival Analysis of Patients with Acute Myeloid Leukemia.
10.19746/j.cnki.issn.1009-2137.2025.03.010
- Author:
Miao HE
1
;
Hong-Juan TIAN
1
;
Dong-Feng MAO
1
;
Xiao-Chen ZHAO
1
;
Shu-Ting ZHANG
1
;
Fang-Qing ZHAO
1
;
Tao WU
1
Author Information
1. Department of Hematology, The 940th Hospital of the Joint Logistics Support Force of the Chinese People's Liberation Army, Lanzhou 730050, Gansu Province, China.
- Publication Type:Journal Article
- Keywords:
acute myeloid leukemia;
mutated genes;
second generation sequencing;
prognostic analysis
- MeSH:
Humans;
Leukemia, Myeloid, Acute/genetics*;
Nucleophosmin;
Mutation;
Prognosis;
Retrospective Studies;
Male;
Female;
High-Throughput Nucleotide Sequencing;
Middle Aged;
DNA Methyltransferase 3A;
Adult;
Aged;
Survival Analysis;
Proto-Oncogene Proteins c-kit/genetics*
- From:
Journal of Experimental Hematology
2025;33(3):691-697
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the gene mutation characteristics and survival time of patients with newly diagnosed acute myeloid leukemia (AML) based on next-generation sequencing(NGS) gene detection.
METHODS:A retrospective analysis was conducted on the clinical data of 92 patients with AML (non APL) admitted to our hospital from January 2018 to May 2022. AML related genes tested were using NGS, the mutation characteristics and survival time of AML patients were analyzed.
RESULTS:Among the 92 patients, 41 were males and 51 were females. A total of 38 types of gene mutations were detected. Six-two patients carried at least one gere mutation, while no gene mutations were detected in 30 patients. In the group with favourable prognosis (n =14), the frequencies of higher gene mutations were NRAS, KIT (21.43%, n =3), KRAS (14.29%, n =2). In the group with intermediate prognosis (n =64), the gene mutation frequencies from high to low were DNMT3A (18.75%, n =12), NPM1 (17.19%, n =11), IDH2, FLT3-ITD, CEBPA (12.50%, n =8), TET2 (10.94%, n =7). In the poor prognosis group (n =14), ASXL1, TP53, EZH2, NRAS had higher gene mutation frequency than others(14.29 %, n =2 ). Statistical analysis revealed that KIT had a relative hotspot of mutations in the intermediate-risk group, and DNMT3A had a relative hotspot of mutations in the high-risk group (P < 0.05). The correlation analysis of genes with high mutation rates in different prognostic groups, such as NRAS, KIT, IDH2, DNMT3A, NPM1, and FLT3-ITD, with prognosis found that KIT was a factor affecting OS (P < 0.05), while no significant differences were observed for the others(P >0.05).
CONCLUSION:The frequency of gene mutations is high in AML patients, 67.4% of the patients carried at least one gene mutation. The mutation frequency varies among different genes in patients with different karyotypes, and there are obvious dominant mutations. KIT and DNMT3A can be used as factors for evaluating the prognosis of AML.
