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甲状腺癌的临床和组织病理特征与TERT促进分子变化在隔离与同时分子变化:一个多中心回顾性研究
Emily Steinberg1, Orr Dimitstein2, Grégoire B Morand2,3,4
1Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H3A 0G4, Canada.
Cancers
|October 26, 2024
概括
甲状腺癌与端粒酶逆转录酶 (TERTp) 突变以及其他遗传变化一起表明更高的风险和侵略性行为. 然而,单独的TERTP突变并不会增加癌症风险.
科学领域:
- 内分泌学 在内分泌学.
- 在瘤学瘤学.
- 分子诊断学 分子诊断
背景情况:
- 甲状腺结节的分子检测有助于评估恶性瘤风险和瘤行为.
- 端粒酶逆转录酶 (TERTp) 突变与侵袭性甲状腺癌有关,但它们的孤立预后价值尚不清楚.
研究的目的:
- 研究甲状腺癌中端粒酶逆转录酶 (TERTp) 突变的预后意义.
- 为了比较单独有TERTP变异的患者和同时有分子变异的患者的瘤行为.
主要方法:
- 从2017年到2024年对30名患有TERTP阳性恶性瘤的甲状腺癌患者进行了回顾性分析.
- 患者群体之间的攻击性组织学亚型和高风险疾病特征 (如甲状腺外延伸,转移) 的比较.
- 统计分析以确定单独的TERTP突变与与其他突变结合的显著性.
主要成果:
- TERTP/BRAF V600E是最常见的组合 (43.3%),其次是单独使用TERTP (26.7%) 和TERTP/RAS (23.4%).
- 有TERTP和并发突变的甲状腺结节显著更有可能具有高风险 (p=0.006) 并与侵略性亚型相关 (p=0.003).
- 与组合突变相比,单独发生的TERTP突变与更良性瘤行为有关.
结论:
- 结合TERTP和并发分子变化的甲状腺癌表现出更具侵略性的特征和更高的高风险分类.
- 在甲状腺癌中孤立的TERTP突变似乎不会增加侵袭性疾病的风险.
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