探索端粒酶逆转录酶（TERT）在甲状腺癌中的作用：一项系统综述。

Exploring the role of TERT in thyroid Cancer: A systematic review.

作者信息

Maloberti Thais, Repaci Andrea, Poppi Laura, Di Paola Floriana Jessica, Calafato Giulia, Coluccelli Sara, Carosi Francesca, Colapinto Alessandra, Colombero Simone, Credi Giacomo, Tallini Giovanni, Pantaleo Maria A, Nannini Margherita, de Biase Dario

机构信息

Solid Tumor Molecular Pathology Laboratory, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.

Division of Endocrinology and Diabetes Prevention and Care, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.

出版信息

Crit Rev Oncol Hematol. 2025 Sep;213:104792. doi: 10.1016/j.critrevonc.2025.104792. Epub 2025 Jun 6.

DOI:10.1016/j.critrevonc.2025.104792

PMID:40482736

Abstract

BACKGROUND

TERT gene mutations play critical roles in tumor progression and have important implications in several solid tumors, including thyroid carcinoma. This study aimed to evaluate the association between TERT promoter mutations and histology and clinical features of thyroid carcinoma (TC).

MATERIALS AND METHODS

We performed an up-to-date systematic review and a comprehensive meta-analysis. Systematic searches were made on MEDLINE (via Pubmed) databases using relevant keywords, and articles published until November 1st, 2024 were selected. A total of 54 studies and 17'021 samples are included in the meta-analysis. Relevant data for the meta-analysis was extracted, and for statistical analysis, chi-square calculation was used.

RESULTS

Thyroid carcinomas with the highest frequency of TERT mutations are Anaplastic thyroid carcinoma (55.8 %) and Diffuse sclerosing variant of papillary thyroid carcinoma (60.4 %). No TERT mutations founds in Benign neoplasm, NIFTP and Medullary thyroid carcinoma. Mutations with the highest frequency is c.-124C>T (chr5:1295228 - C228T). TERT mutations are statistically correlated with Stage III&IV, presence of metastasis, overall survival, recurrence and radioiodine-refractory.

CONCLUSION

TERT mutation plays a crucial role as a prognostic biomarker with tumor aggressiveness. Thus, in clinical practice, mutational status assessment of the TERT promoter should be considered for accurate prognostic stratification of TCs.

摘要

背景

端粒酶逆转录酶（TERT）基因突变在肿瘤进展中起关键作用，并且在包括甲状腺癌在内的多种实体瘤中具有重要意义。本研究旨在评估TERT启动子突变与甲状腺癌（TC）的组织学及临床特征之间的关联。

材料与方法

我们进行了一项最新的系统综述和全面的荟萃分析。使用相关关键词在MEDLINE（通过PubMed）数据库中进行系统检索，并选择截至2024年11月1日发表的文章。荟萃分析共纳入54项研究和17021个样本。提取荟萃分析的相关数据，并使用卡方计算进行统计分析。

结果

TERT突变频率最高的甲状腺癌是间变性甲状腺癌（55.8%）和甲状腺乳头状癌弥漫硬化型（60.4%）。在良性肿瘤、非侵袭性滤泡性甲状腺肿瘤伴乳头状核特征性改变（NIFTP）和甲状腺髓样癌中未发现TERT突变。频率最高的突变是c.-124C>T（chr5:1295228 - C228T）。TERT突变与III期和IV期、转移的存在、总生存期、复发和放射性碘难治性在统计学上相关。