2025 年第 9 期 第 20 卷

α-地中海贫血/X连锁智力低下综合征和端粒酶逆转录酶基因突变在不同类型胶质瘤中的表达及与预后的关系

Expression of α-thalassemia/X-linked mental retardation syndrome and telomerase reverse transcriptase gene mutation in different types of gliomas and their relationship with prognosis

作者：肖维汉史桃圳王振程海裘自力张桐阴鲁鑫

英文作者：Xiao Weihan Shi Taozhen Wang Zhen Cheng Hai Qiu Zili Zhang Tong Yin Luxin

单位：徐州医科大学附属医院神经外科，徐州221000

英文单位：Department of Neurosurgery Affiliated Hospital of Xuzhou Medical University Xuzhou 221000 China

关键词：胶质瘤；α-地中海贫血/X连锁智力低下综合征；端粒酶逆转录酶；基因突变；预后

英文关键词：Glioma;α-thalassemia/X-linkedmentalretardationsyndrome;Telomerasereversetranscriptase;Genemutation;Prognosis

• 摘要：

• 目的 探究α-地中海贫血/X连锁智力低下综合征（ATRX）和端粒酶逆转录酶（TERT）基因在不同类型胶质瘤中的突变情况，分析ATRX、TERT基因突变与患者预后的关系。方法 回顾性分析2021年9月至2024年9月徐州医科大学附属医院收治的117例新诊断的胶质瘤患者的临床资料。根据术后病理类型将患者分为胶质母细胞瘤组（61例）、少突胶质细胞瘤组（29例）、星形细胞瘤组（27例）。比较各组一般临床资料及ATRX、TERT启动子突变阳性率；多因素Cox回归模型分析影响胶质瘤患者预后的因素，Kaplan-Meier生存曲线分析ATRX、TERT基因突变与患者预后的相关性。结果 少突胶质细胞瘤组、星形细胞瘤组ATRX表达率高于胶质母细胞瘤组［65.5%(19/29)、63.0%(17/27)比36.1%(22/61)］，星形细胞瘤组TERT启动子突变率低于胶质母细胞瘤组、少突胶质细胞瘤组［25.9%(7/27)比62.3%(38/61)、79.3%(23/29)］（均P＜0.05）。多因素Cox回归分析结果显示，ATRX、TERT启动子突变情况是影响胶质瘤患者预后的相关因素（均P＜0.05）。Kaplan-Meier生存分析显示，ATRX失表达患者总生存期短于ATRX表达患者［（29.1±1.3）个月比（34.2±0.8）个月］（Log-rank χ2=4.835，P=0.028）；TERT启动子突变患者总生存期短于TERT启动子非突变患者［（28.4±1.2）个月比（34.9±0.8）个月］（Log-rank χ2=7.307，P=0.007）。结论 不同类型胶质瘤患者的ATRX表达情况及TERT启动子突变情况存在差异；ATRX失表达、TERT启动子突变对胶质瘤患者的预后具有一定影响。

• Objective To investigate the mutation of α-thalassemia/X-linked mental retardation syndrome (ATRX) and telomerase reverse transcriptase (TERT) gene in different types of gliomas, and to analyze the relationship between ATRX and TERT gene mutation and the prognosis of patients. Methods The clinical data of 117 patients with newly diagnosed glioma admitted to the Affiliated Hospital of Xuzhou Medical University from September 2021 to September 2024 were retrospectively analyzed. According to the postoperative pathological type, the patients were divided into glioblastoma group (61 cases), oligodendroglioma group (29 cases) and astrocytoma group (27 cases). The general clinical data and the positive rate of ATRX and TERT promoter mutation in each group were compared. Multivariate Cox regression model was used to analyze the factors affecting the prognosis of glioma patients. Kaplan-Meier survival curve was used to analyze the correlation between ATRX and TERT gene mutation and the prognosis of patients. Results The ATRX expression rates of oligodendroglioma group and astrocytoma group were higher than that of glioblastoma group ［65.5%(19/29), 63.0%(17/27) vs 36.1%(22/61)］, the TERT promoter mutation rate in astrocytoma group was lower than those in glioblastoma group and oligodendroglioma group ［25.9%(7/27) vs 62.3%(38/61), 79.3%(23/29)］(all P＜0.05). Multivariate Cox regression analysis showed that ATRX and TERT promoter mutation were related factors affecting the prognosis of glioma patients (P＜0.05). Kaplan-Meier survival analysis showed that patients with ATRX loss had a shorter overall survival than those with ATRX expression ［(29.1±1.3)months vs (34.2±0.8）months］(Log-rank χ2=4.835，P=0.028). The overall survival of patients with TERT promoter mutation was shorter than that of patients without TERT promoter mutation ［(28.4±1.2) months vs (34.9±0.8)months］(Log-rank χ2=7.307，P=0.007). Conclusion ATRX expression and TERT promoter mutation are different in different types of gliomas. Loss of ATRX expression and TERT promoter mutation have a certain impact on the prognosis of glioma patients.