Analysis of CSF3R Gene Mutations and Clinical Characteristics in Patients with t(8;21) Acute Myeloid Leukemia.
10.19746/j.cnki.issn.1009-2137.2023.04.014
- Author:
Miao CUI
1
;
Qing-Yun LI
1
;
Xu-Zhang LU
2
;
Hong-Ying CHAO
3
;
Xiao-Hui CAI
3
;
Jie LIU
3
;
Hai-Ying HUA
4
;
Pin WU
5
Author Information
1. School of Clinical Medicine, Dalian Medical University, Dalian 116000, Liaoning Province, China.
2. Department of Hematology, Changzhou No.2 People's Hospital, the Affiliated Hospital of Nanjing Medical University, Changzhou 213000, Jiangsu Province, China.E-mail: luxuzhang2008@163.com.
3. Department of Hematology, Changzhou No.2 People's Hospital, the Affiliated Hospital of Nanjing Medical University, Changzhou 213000, Jiangsu Province, China.
4. Department of Hematology, Wuxi Second People's Hospital, Wuxi 214000, Jiangsu Province, China.
5. Department of Hematology, Wuxi Third People's Hospital,Wuxi 214000, Jiangsu Province, China.
- Publication Type:Journal Article
- Keywords:
acute myeloid leukemia;
gene mutation;
next-generation sequencing;
t(8;
21)
- MeSH:
Humans;
Retrospective Studies;
Prognosis;
Leukemia, Myeloid, Acute/genetics*;
Mutation;
Signal Transduction;
Receptors, Colony-Stimulating Factor/genetics*
- From:
Journal of Experimental Hematology
2023;31(4):1019-1025
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the occurrence of CSF3R mutation in patients with t(8;21) acute myeloid leukemia (AML) and its correlation with some clinical parameters.
METHODS:The clinical and laboratory data of 167 newly diagnosed AML patients with t(8;21) translocation were analyzed retrospectively. High-throughput DNA sequencing technology combined with Sanger sequencing method was used to detect 112 gene mutations. The occurrence of CSF3R gene mutation and its influence on the remission rate after chemotherapy were analyzed.
RESULTS:Among 167 patients with t(8;21) AML, 15 patients (9.0%) carried CSF3R mutations, including 6 cases of membrane proximal region mutations and 9 cases of truncation mutations in the cytoplasmic tail. The most common coexisting mutations of CSF3R were KIT (40.0%), TET2 (33.3%), DNMT3A (26.7%), FLT3 (20.0%), CBL (20.0%), IDH1 (13.3%), etc. Compared with the wild type, the CSF3R mutant group had a higher mutation rate of DNA methylation-related genes（P <0.001）. The median peripheral white blood cell (WBC) count of patients with CSF3R gene mutation was 5.80 (3.20-8.56)×109/L at initial diagnosis, which was significantly lower than 8.80 (5.26-19.92)×109/L of the CSF3R wild-type patients (P =0.017). There was no significant difference between the two groups in sex, median age, FAB classification, hemoglobin level, platelet count, etc. (P >0.05). The CR rate of the CSF3R gene mutation group (100%) was significantly higher than that of the wild-type group (86.8%), but the difference was not statistically significant (P >0.05). The CSF3R gene mutation group had a significantly higher CD19 positive rate and a higher -X rate than the wild group (86.7% vs 47.4%, P =0.004; 33.3% vs 13.2%, P =0.037).
CONCLUSION:There is a high incidence of CSF3R mutation in t (8;21) AML patients. The clinical characteristics and coexisting mutation genes of CSF3R mutation-positive patients are different from those of wild-type patients.
