Gene mutations of patients with myelodysplastic syndromes
10.3760/cma.j.issn.1009-9921.2018.08.001
- VernacularTitle: 骨髓增生异常综合征患者基因突变情况分析
- Author:
Weiyi LIU
1
;
Richeng QUAN
1
;
Pan ZHAO
1
;
Hongmei ZHAO
2
;
Haiyan XIAO
1
;
Chi LIU
1
;
Qianze ZHU
1
;
Hongzhi WANG
1
;
Liu LI
1
;
Yan LYU
1
;
Yonggang XU
1
;
Jiayue QIN
2
;
Rou MA
1
;
Xiaomei HU
1
Author Information
1. Department of Hematology, Xiyuan Hospital, China Academy of Chinese Medical Sciences, Beijing 100091, China
2. Research and Development Center, Annoroad Gene Technology Co., Ltd. Beijing, Beijing 100176, China
- Publication Type:Journal Article
- Keywords:
Myelodysplastic syndromes;
Next generation sequencing;
Gene mutation;
Clinical features
- From:
Journal of Leukemia & Lymphoma
2018;27(8):449-452
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the gene mutations in the patients with myelodysplastic syndromes (MDS).
Methods:Forty-seven patients with MDS newly diagnosed in Xiyuan Hospital, China Academy of Chinese Medical Sciences from January 2016 to July 2017 were enrolled. NGS 127-gene panel was used to detect the gene mutations, and the relationship between the gene mutations and the clinicopathological features was also analyzed.
Results:Thirty-one (66.0 %) cases had gene mutations in 47 patients with MDS, and 23 gene mutations were detected with clinical significances. There were 7 mutant genes with a mutation frequency over 5 % in the population, including U2AF1 (23.4 %), SF3B1 (12.8 %), ASXL1 (10.6 %), TET2 (8.5 %), BCOR (8.5 %), TP53 (8.5 %) and DNMT3A (6.4 %) in turn. Among 31 patients with gene mutations, 16 (51.6 %) patients had ≥ 2 synergistic mutations, and 12 cases had synergistic mutations in different genetic functional groups, which was higher than that in same genetic functional groups (4 cases). There was a tendency of coexistence in IDH2-KRAS, IDH2-SRSF2, IDH2-STAG2, KRAS-SRSF2, KRAS-STAG2, RUNX1-PHF6, EZH2-ASXL1, EZH2-ZRSR2, and NPM1-NRAS (all P < 0.05). The variant allele frequency (VAF) of signaling pathway related genes including JAK2, KRAS, NRAS, SH2B3 was low in general and in a sub-clone status. JAK2 gene mutation was observed in 1 case with MDS-U. SH2B3 gene mutation was observed in a patient with very poor prognosis of karyotype. SETPB1 and EZH1 gene mutations were observed in two patients with high-risk revised international prognostic scoring system (IPSS-R).
Conclusions:The common mutated genes include U2AF1, SF3B1, ASXL1 and TET2. The genes in different genetic functional groups tend to synergistic mutations. Gene mutations can be used to predict the prognosis of diseases and become the target in the treatment of MDS.
