Wang Yu-Feng, Yang Yan-Li, Geng Ying-Hua
Department of Hematology, The First Affiliated Hospital of Bengbu Medical University, Bengbu 233000, Anhui Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2024 Dec;32(6):1798-1806. doi: 10.19746/j.cnki.issn.1009-2137.2024.06.025.
To explore the characteristics of gene mutation in patients with myelodysplastic syndrome (MDS) and its correlation with clinical features.
From January 2017 to December 2021, 172 patients with MDS in The First Affiliated Hospital of Bengbu Medical University were analyzed retrospectively. Fourteen high frequency genes related to MDS were detected, and the relationship between gene mutation and clinical characteristics of patients as well as revised International Prognostic Scoring System (IPSS-R) was analyzed. The impact of gene mutations on prognosis was explored.
Among 172 patients, there were 101 males and 71 females, with a median age of 67 (15-89) years old, and gene mutations were detected in 88 cases (51.2%). The genes with mutation incidence >5% were arranged in descending order as follows: and . According to biological functional classification, the genes with the highest mutation frequency were epigenetic regulatory genes (36.6%). The proportion of primitive bone marrow cells in mutation group was higher than that in non-mutation group ( < 0.001). The incidence of gene mutation varied in different MDS subtypes, and the difference was statistically significant ( < 0.05). The mutation incidence in IPSS-R higher risk group (IPSS-R score >3.5) was 65.7%, which was significantly higher than 30.0% in IPSS-R lower risk group (IPSS-R score ≤3.5) ( < 0.05), and there was a statistically significant difference in the incidence of gene mutation between the two groups ( < 0.05). Multivariate Cox survival analysis showed that and gene mutation were independent risk factors affecting prognosis.
MDS patients are prone to gene mutation, and the increasing number of mutations and the presence of and gene mutation may be factors affecting the prognosis.
探讨骨髓增生异常综合征（MDS）患者基因突变特征及其与临床特征的相关性。
回顾性分析2017年1月至2021年12月蚌埠医学院第一附属医院收治的172例MDS患者。检测14个与MDS相关的高频基因，分析基因突变与患者临床特征及修订的国际预后评分系统（IPSS-R）的关系。探讨基因突变对预后的影响。
172例患者中，男性101例，女性71例，中位年龄67（15 - 89）岁，88例（51.2%）检测到基因突变。突变发生率>5%的基因按降序排列如下：……。按生物学功能分类，突变频率最高的基因是表观遗传调控基因（36.6%）。突变组原始骨髓细胞比例高于非突变组（P<0.001）。不同MDS亚型基因突变发生率不同，差异有统计学意义（P<0.05）。IPSS-R高危组（IPSS-R评分>3.5）突变发生率为65.7%，显著高于IPSS-R低危组（IPSS-R评分≤3.5）的30.0%（P<0.05），两组……基因突变发生率差异有统计学意义（P<0.05）。多因素Cox生存分析显示，……和……基因突变是影响预后的独立危险因素。
MDS患者易于发生基因突变，突变数量增加以及……和……基因突变的存在可能是影响预后的因素。
