Analysis of SRSF2 Gene Mutation in Patients with Chronic Myelomonocytic Leukemia
10.19746/j.cnki.issn1009-2137.2025.01.003
- VernacularTitle:慢性粒单核细胞白血病患者SRSF2基因突变分析
- Author:
Chang-Rui TAO
1
;
Bi-Tao XIAO
;
Pin WU
;
Zhi-Qi WANG
;
Hong-Ying CHAO
Author Information
1. 南京医科大学附属常州第二人民医院血液科,江苏常州 213000
- Publication Type:Journal Article
- Keywords:
SRSF2;
chronic myelomonocytic leukemia;
mutation
- From:
Journal of Experimental Hematology
2025;33(1):20-24
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To characterize the occurrence of SRSF2 mutations in chronic myelomonocytic leukemia(CMML)patients and their correlation with other gene mutations and some clinical characteristics.Methods:The clinical data of 43 CMML patients diagnosed in Changzhou No.2 People's Hospital and Wuxi No.2 People's Hospital were retrospectively analyzed,and gene mutations detection was performed using next-generation sequencing(NGS).Results:Among the 43 CMML patients the SRSF2 mutation detection rate was 39.5％(17/43).These mutations clustered collectively at the proline 95 residue in the splicing factor SRSF2.The other genes with mutation rate greater than 15％were ASXL1(48.8％),TET2(41.9％),NRAS(30.2％),RUNX1(25.6％),and SETBP1(16.3％).Among SRSF2-mutated patients,the most common co-mutation was ASXL1,followed by TET2.The median age of SRSF2 mutant patients was significantly higher than that of the wild type(68 vs 51.5,P＜0.001),but there was not statistically significant differences in gender,peripheral leukocytes,hemoglobin,platelets,karyotype,and blast cell compared to the wild-type(all P＞0.05).Notably,4 out of the 6 SRSF2mutASXL1mut CMML patients developed leukemia transformation,and 1 out of 10 SRSF2wt ASXL1wt CMML patients developed leukemia transformation,with statistically significant difference in leukemia transformation rates(66.7％vs 10％,P=0.036).Conclusion:SRSF2 mutations have a high incidence in CMML,occurring frequently in older patients,and often coexisting with ASXL1 and TET2 mutations.Patients with CMML carrying both SRSF2mutASXL1mut double mutations have a higher risk of acute leukemia transformation.
