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Association of telomerase reverse transcriptase promoter mutations with clinicopathological features and prognosis of thyroid cancer: a meta-analysis

机译：端粒酶逆转录酶启动子突变与甲状腺癌的临床病理特征和预后的关联：一项荟萃分析

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The clinicopathological and prognostic significance of telomerase reverse transcriptase ( TERT ) promoter mutations have been widely investigated in thyroid cancer; however, the results are still discrepant. Systematic searches were performed in PubMed, Web of Science, Scopus, Ovid, and the Cochran Library databases for relevant articles prior to April 2016. Mutation rates were synthesized by R statistical software. The odds ratio or standardized mean difference with 95% confidence interval was pooled by Stata. A total of 22 studies with 4,907 cases were included in this meta-analysis. TERT promoter mutations tended to present in aggressive histological types including poorly differentiated thyroid cancer (33.37%), anaplastic thyroid cancer (38.69%), and tall-cell variant papillary thyroid cancer (30.23%). These promoter mutations were likely to exist in older patients and males and were well associated with larger tumor size, extrathyroidal extension, vascular invasion, lymph node metastasis, distant metastasis, advanced tumor stage, disease recurrence/persistence, and mortality. In addition, TERT promoter mutations (especially C228T) tended to coexist with BRAFV600E mutation, which indicated more aggressive tumor behavior. Therefore, TERT promoter mutations may be promising biomarkers for early diagnosis, risk stratification, prognostic prediction, and management of thyroid cancer.
机译：端粒酶逆转录酶（TERT）启动子突变的临床病理和预后意义已在甲状腺癌中得到广泛研究。但是，结果仍然不一致。在2016年4月之前，在PubMed，Web of Science，Scopus，Ovid和Cochran图书馆数据库中对相关文章进行了系统搜索。通过R统计软件合成了突变率。 Stata汇总了具有95％置信区间的比值比或标准化平均差。这项荟萃分析共纳入22项研究，涉及4,907例病例。 TERT启动子突变倾向于出现在侵袭性组织学类型中，包括分化差的甲状腺癌（33.37％），间变性甲状腺癌（38.69％）和高细胞变异乳头状甲状腺癌（30.23％）。这些启动子突变很可能存在于老年患者和男性中，并且与更大的肿瘤大小，甲状腺外延伸，血管浸润，淋巴结转移，远处转移，肿瘤晚期，疾病复发/持续性以及死亡率密切相关。此外，TERT启动子突变（特别是C228T）倾向于与BRAF V600E 突变共存，表明其更具侵袭性。因此，TERT启动子突变可能是早期诊断，风险分层，预后预测和甲状腺癌治疗的有前途的生物标志物。

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