2025 年第 1 期 第 20 卷

TET甲基胞嘧啶双加氧化酶2和DNA甲基化转移酶3A基因表达水平与骨髓增生异常综合征分型及预后的关系

Relationship between the expression levels of TET methylcytosine dioxygenase 2 and DNA methyltransferase 3A and the classification and prognosis of myelodysplastic syndromes

作者：李素欣1 王友君1 冯丽倩1 王苗2 李栋梁1 安乐1 文文1

英文作者：Li Suxin1 Wang Youjun1 Feng Liqian1 Wang Miao2 Li Dongliang1 An Le1 Wen Wen1

单位：1河北省石家庄市人民医院血液内科，石家庄050000；2河北省沧州中西医结合医院放化疗四科，沧州061000

英文单位：1Department of Hematology Shijiazhuang People′s Hospital Heibei Province Shijiazhuang 050000 China; 2the Fourth Department of Radiotherapy and Chemotherapy，Cangzhou Hospital of Integrated Traditional Chinese and Western Medicine Hebei Province Cangzhou 061000 China

关键词：骨髓增生异常综合征；  TET甲基胞嘧啶双加氧化酶2；  DNA甲基化转移酶3A；  预后

英文关键词：Myelodysplasticsyndrome;  TETmethylcytosinedioxygenase2;  DNAmethyltransferase3A; Prognosis

• 摘要：

• 目的  探索TET甲基胞嘧啶双加氧化酶2（TET2）、DNA甲基化转移酶3A（DNMT3A）基因表达水平与骨髓增生异常综合征（MDS）患者临床分型及预后的关系。方法  回顾性选取2015年1月至2022年12月河北省石家庄市人民医院收治的97例MDS患者纳入观察组，另选取同期本院体检不合并血液系统疾病者90例纳入对照组、再生障碍贫血患者87例纳入相似对照组。比较3组TET2、DNMT3A基因表达水平，对比MDS各分型以及各预后分级患者基因表达水平差异。结果  观察组TET2基因表达水平均低于对照组和相似对照组，DNMT3A基因表达水平均高于对照组和相似对照组（均P＜0.001），但在MDS不同分型患者间比较，差异均无统计学意义（均P＞0.05）。随着预后危险程度增加，TET2基因表达水平整体呈现降低趋势，DNMT3A基因表达水平整体呈现升高趋势（均P＜0.001）。TET2基因表达水平与MDS预后不良呈负相关（r=-0.664，P＜0.001），DNMT3A基因表达水平与MDS预后不良呈正相关（r=0.639，P＜0.001）。结论  TET2、DNMT3A基因表达水平在MDS各分型间无明显差异，但与MDS预后显著相关，临床上对于患者预后判断具有参考意义。

• Objective  To explore the relationship between the gene expression levels of TET methylcytosine dioxygenase 2 (TET2) and DNA methyltransferase 3A (DNMT3A) and the clinical classification and prognosis of patients with myelodysplastic syndromes (MDS).Methods   A total of 97 patients with MDS admitted to Shijiazhuang People′s Hospital, Heibei Province from January 2015 to December 2022 were retrospectively selected as the observation group, and 90 people without blood system diseases in the same hospital during the same period of physical examination were selected as the control group, and 87 patients with aplastic anemia were selected as the similar control group. The expression levels of TET2 and DNMT3A genes in the three groups were compared, and the differences of gene expression levels in patients with different MDS types and prognostic grades were compared. Results   The expression level of TET2 gene in the observation group was lower than those in the control group and similar control group, and the expression level of DNMT3A gene was higher than those in the control group and similar control group (all P<0.001). However, there was no significant difference between patients with different types of MDS (all P>0.05). With the increase of prognosis risk, the expression level of TET2 gene showed an overall downward trend, and the expression level of DNMT3A gene showed an overall upward trend (all P<0.001). The expression level of TET2 gene was negatively correlated with the poor prognosis of MDS(r=-0.664, P<0.001), and the expression level of DNMT3A gene was positively correlated with the poor prognosis of MDS (r=0.639, P<0.001). Conclusion   The expression levels of TET2 and DNMT3A genes are not significantly different among different types of MDS, but are significantly related to the prognosis of MDS, and have reference significance for the prognosis of patients in clinic.