Analysis of RUNX1 Gene Mutation in Patients with Myelodysplastic Syndrome.
10.7534/j.issn.1009-2137.2020.01.034
- Author:
Xiao-Hui CAI
1
;
Mei-Yu CHEN
1
;
Hong-Ying CHAO
2
;
Nai-Ke JIANG
1
;
Xu-Zhang LU
1
;
Wen-Min HAN
1
;
Wei QIN
1
;
Zhu-Xia JIA
1
Author Information
1. Department of Hematology, The Changzhou Second Hospital Affiliated to Nanjing Medical University, Changzhou 213003, Jiangsu Province, China.
2. Department of Hematology, The Changzhou Second Hospital Affiliated to Nanjing Medical University, Changzhou 213003, Jiangsu Province, China,E-mail: chaohy2006@126.com.
- Publication Type:Journal Article
- From:
Journal of Experimental Hematology
2020;28(1):202-208
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the mutation of RUNX1 gene in patients with myelodysplastic syndrome (MDS) and its correlation with other gene mutations and some clinical parameters.
METHODS:The mutations of RUNX1, DNMT3A, TET2, IDH1/2, NPM1, FLT3-ITD and C-KIT in 170 patients with MDS were detected by direct and indirect sequencing of genomic DNA-PCR amplification products.
RESULTS:The RUNX1 mutation was found in 23 patients (13.5 %, 23/170). Among the 170 patients, other most frequent mutation was TET2 (11.2%, 19/170), followed by mutations in DNMT3A (9.4%, 16/170), NPM1 (8.2%, 14/170), IDH2 (4.1%, 7/170)、FLT3-ITD (2.9%, 5/170), IDH1 (1.7%, 3/170) and c-KIT (0.58%, 1/170). The most common coexisting mutations were TET2 (5/23). The RUNX1-mutated group showed significantly higher leukocyte levels, higher percentages of blast cells, higher incidences of leukemia transformation and lower platelet counts in comparison with RUNX1 non-mutation group (P＜0.05). whereas there were no statistically significant difference in age, MDS subtype, karyotype and hemoglobin level between 2 groups (P＞0.05). Seventeen patients harboring RUNX1 mutations were followed up and almost 47.05% (8/17) of the patients progressed into acute myeloid leukemia (AML). The rates of transformation into AML in ASXL1-mutation group was significantly higher than that in ASXLL- non-mutation group (47.05% vs 11.7%) (P=0.001).
CONCLUSION:The incidence of RUNX1 mutation is high in MDS patients. The RUNX1-mutated patients have higher leukocyte level, higher percentages of blast cells, higher incidences of leukemia transformation and lower platelet count.
