The prognostic value of DTA gene mutations in myelodysplastic syndrome
10.3760/cma.j.cn112138-20201107-00927
- VernacularTitle:DTA突变在骨髓增生异常综合征患者中的预后价值
- Author:
Yanxia CEN
1
;
Xiaolong QI
;
Yuling NIE
;
Shunsheng ZHAI
;
Zengsheng WANG
;
Yichun WANG
;
Qin HUANG
;
Li AN
;
Ling FU
;
Min MAO
;
Yan LI
Author Information
1. 新疆维吾尔自治区人民医院血液病科，乌鲁木齐 830001
- Keywords:
Myelodysplastic syndromes;
Clinical characteristics;
Prognosis;
DTA mutations
- From:
Chinese Journal of Internal Medicine
2021;60(7):656-660
- CountryChina
- Language:Chinese
-
Abstract:
To investigate the clinical features and prognostic significance in myelodysplastic syndrome (MDS) patients with DTA (DNMT3A,TET2,ASXL1) mutations. Clinical characteristics of 140 patients diagnosed as de novo MDS at People′s Hospital of Xinjiang Uygur Autonomous Region from September 2015 to December 2019 were retrospectively analyzed. Next-generation sequencing was used to detect 34 related genes in MDS patients. DTA mutations and the correlation with progression-free survival (PFS) and overall survival (OS) in MDS patients were evaluated. Among 140 MDS patients, DTA mutations was detected in 62 (44.3%) patients. And the positive rate of DTA mutations in IPSS-R lower-risk group was 65.4%, significantly higher than that of higher-risk group (31.8%)( P=0.000). Compared with the non-mutated group, patients with DTA mutations had a lower rate of conversion to leukemia (9.7% vs . 29.5%, P=0.004).Survival analysis showed that PFS in patients with DTA mutations was comparable as that in MDS patients without DTA mutations ( P=0.787), but the median OS was significantly shorter (16 months vs . 20 months, P=0.022).According to IPSS-R classification, the median OS in patients with and without DTA mutation was only statistically significant in the higher-risk group (15 months vs. 18 months, P=0.034).Among 62 patients with DTA mutations, 60 (96.8%) had additional gene mutations. DTA mutations were not independent prognostic factors when mutation frequency is greater than 10% were considered in Cox regression model ( P>0.05). DTA mutations often developed in the early stage of MDS, therefore they were more common in IPSS-R lower-risk subgroup which was correlated to the low rate of conversion to leukemia. In conclusion, DTA mutations are not associated with disease progression, but predict unfavorable survival when other add-on genes are mutated.
