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端粒酶逆转录酶促进体 (TERT) 发生突变的不确定的甲状腺结节的组织病理学
Jessica O Pinto1, Masha J Livhits2, Michael W Yeh2
1Department of Internal Medicine, University of Washington, Seattle, WA, USA.
Journal of clinical & translational endocrinology
|December 20, 2023
概括
在未确定的甲状腺结节 (ITN) 中,端粒酶逆转录酶促进体 (TERT) 突变表明有84%的恶性瘤风险. 目前的数据显示,单独的TERT突变和TERT + RAS共同突变的恶性病发率相似.
科学领域:
- 内分泌学和甲状腺学.
- 分子瘤学分子瘤学
- 手术病理学手术病理学
背景情况:
- 细胞学上不确定的甲状腺结节 (ITN) 是一个诊断挑战.
- 在甲状腺结节中,越来越多地发现了基因突变,特别是在端粒酶逆转录酶促进体 (TERT) 中.
- 了解ITN中TERT突变的致癌潜力对于临床管理至关重要.
研究的目的:
- 分析与细胞学上不确定的甲状腺结节 (ITN) 中TERT突变相关的恶性瘤风险.
- 为了研究TERT突变的ITN的组织病理学特征.
- 为了比较单独的TERT突变和共同突变 (TERT + RAS,TERT + BRAFV600E) 之间的恶性和组织病理风险.
主要方法:
- 在PubMed上进行了系统的文献搜索,寻找分子测试的ITN.
- 数据提取的重点是TERT突变的ITN与他的病理相关性.
- 分析包括在26份手稿 (2014-2022) 中报告的77个TERT突变的ITN.
主要成果:
- 有TERT突变的ITN显示总体恶性瘤率高达84% (65/77个结节).
- 孤立的TERT突变显示了87%的恶性瘤率,其中35%是高风险的组织病理学.
- TERT + RAS共同突变的恶性瘤率为85%,低风险为14%,高风险为10%;TERT + BRAFV600E突变都是恶性的 (5/5),高风险为60%.
结论:
- 有TERT突变的ITN具有显著的恶性瘤风险 (84%).
- 在孤立的TERT突变和TERT + RAS共突变之间没有观察到恶性瘤发病率的显著差异.
- 需要进一步的研究,以确定TERT突变ITN的最佳积极治疗策略,考虑到未知的瘤结果.
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