Analysis of SRSF2 Gene Mutation in Patients with Chronic Myelomonocytic Leukemia.
10.19746/j.cnki.issn.1009-2137.2025.01.003
- Author:
Chang-Rui TAO
1
;
Bi-Tao XIAO
1
;
Pin WU
2
;
Zhi-Qi WANG
1
;
Hong-Ying CHAO
1
Author Information
1. Department of Hematology, The Affiliated Changzhou No.2 People's Hospital of Nanjing Medical University, Changzhou 213000, Jiangsu Province, China.
2. Department of Hematology, Jiangnan University Medical Center, Wuxi No.2 People's Hospital, Wuxi 214000, Jiangsu Province, China.
- Publication Type:Journal Article
- MeSH:
Humans;
Serine-Arginine Splicing Factors/genetics*;
Mutation;
Leukemia, Myelomonocytic, Chronic/genetics*;
Retrospective Studies;
Male;
Female;
Repressor Proteins/genetics*;
DNA-Binding Proteins/genetics*;
Dioxygenases;
Middle Aged;
Aged;
Proto-Oncogene Proteins/genetics*
- 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 SRSF2 mutASXL1mut CMML patients developed leukemia transformation, and 1 out of 10 SRSF2 wtASXL1wt 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 SRSF2mut ASXL1mut double mutations have a higher risk of acute leukemia transformation.
