Clinical Characteristics of Acute Myeloid Leukemia Patients with RUNX1 Gene Mutation.
10.19746/j.cnki.issn.1009-2137.2021.05.007
- Author:
Zeng-Feng NI
1
;
Li-Jie MA
1
;
Li-Li SHI
1
;
Pan-Li SHEN
1
;
Jian-Qiang ZHAO
2
Author Information
1. Department of Hematology, The First Affiliated Hospital of Xi'an Medical University, Xi'an 710077, Shaanxi Province, China.
2. Department of Hematology, The First Affiliated Hospital of Xi'an Medical University, Xi'an 710077, Shaanxi Province, China E-mail: zhaojianqiang@xiyi.edu.cn.
- Publication Type:Journal Article
- MeSH:
Core Binding Factor Alpha 2 Subunit/genetics*;
Humans;
Karyotype;
Leukemia, Myeloid, Acute/genetics*;
Leukocytes, Mononuclear;
Mutation;
Nucleophosmin
- From:
Journal of Experimental Hematology
2021;29(5):1411-1416
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the incidence of Runt-related transcription factor 1 (RUNX1) gene and its associated gene mutations in patients with acute myeloid leukemia (AML), and analyze its clinical characteristics and prognosis.
METHODS:The genomic DNA-PCR method was used to detect the exon of RUNX1 gene, and the gene mutations were analyzed by genetic sequencing. NPM1, DNMT3A, FLT3-ITD, IDH1/2, K/N-RAS, CEPBA, TET2, and WT1 co-mutations were also detected. Patients were followed up to determine efficacy and prognosis.
RESULTS:Among 171 patients, the RUNX1 gene mutation was detected in 17 cases, and the mutation rate was 9.9%. The type of RUNX1 gene mutation was 9 missense mutations, 4 frameshift mutations, and 4 nonsense mutations. The peripheral blood leukocyte count of the patients in mutation group was 3 (1-101) ×10
CONCLUSION:AML patients with RUNX1 gene mutation shows unique clinical and biological characteristics, RUNX1 mutation can be regarded as a molecular marker of poor prognosis in AML patients.
