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胶质瘤中的端粒酶逆转录酶突变:发生率、预后及风险

TERT mutation in glioma: Frequency, prognosis and risk.

作者信息

Yuan Yang, Qi Chen, Maling Gou, Xiang Wang, Yanhui Liu, Ruofei Liang, Yunhe Mao, Jiewen Luo, Qing Mao

机构信息

Department of Neurosurgery, West China Hospital, Si Chuan University, Waiguoxuexiang No. 37, Chengdu, Sichuan Province 610041, China.

The Affiliated Hospital of Cheng Du University, China.

出版信息

J Clin Neurosci. 2016 Apr;26:57-62. doi: 10.1016/j.jocn.2015.05.066. Epub 2016 Jan 4.

Abstract

Telomerase reverse transcriptase (TERT) has received a great deal of attention in recent years for its role as a prognostic and predictive molecular marker of glioma. However, the results of studies examining its mutation frequency and predictive value are inconsistent, and several studies have investigated the association between TERT gene polymorphisms and gliomagenesis. We used a meta-analysis approach to examine these unsolved problems. A bibliography search using EMBASE and MEDLINE was performed to identify potentially relevant articles and conference abstracts that investigated TERT mutations in glioma. The references contained in the identified trials were also examined to identify any other relevant published or unpublished articles. Sixteen studies were included. Pooled estimates of the relative risks (RR), 95% confidence intervals (95% CI), hazard ratios (HR) and frequency were calculated. TERT mutations occurred frequently in glioblastoma (69%) and oligodendrogliomas (72%) but were less frequent in astrocytomas (24%) and oligoastrocytomas (38%). The HR for glioma patients with TERT mutations versus wild type TERT was 1.63 (95% CI 1.35-1.98). TERT polymorphisms were associated with an increased risk of glioma compared to controls (RR=1.28, 95% CI 1.23-1.33). Our study shows that the TERT gene is a valuable prognostic and predictive biomarker of glioma, and TERT gene polymorphisms are significantly associated with an increased risk of glioma.

摘要

近年来,端粒酶逆转录酶(TERT)作为胶质瘤的预后和预测分子标志物受到了广泛关注。然而,关于其突变频率和预测价值的研究结果并不一致,并且有多项研究探讨了TERT基因多态性与胶质瘤发生之间的关联。我们采用荟萃分析方法来研究这些尚未解决的问题。利用EMBASE和MEDLINE进行文献检索,以识别研究胶质瘤中TERT突变的潜在相关文章和会议摘要。还对已识别试验中包含的参考文献进行了检查,以确定任何其他相关的已发表或未发表文章。纳入了16项研究。计算了相对风险(RR)、95%置信区间(95%CI)、风险比(HR)和频率的合并估计值。TERT突变在胶质母细胞瘤(69%)和少突胶质细胞瘤(72%)中频繁发生,但在星形细胞瘤(24%)和少突星形细胞瘤(38%)中发生频率较低。TERT突变的胶质瘤患者与野生型TERT患者相比,HR为1.63(95%CI 1.35 - 1.98)。与对照组相比,TERT基因多态性与胶质瘤风险增加相关(RR = 1.28,95%CI 1.23 - 1.33)。我们的研究表明,TERT基因是胶质瘤有价值的预后和预测生物标志物,并且TERT基因多态性与胶质瘤风险增加显著相关。

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