TERT促进子突变对预测脑膜瘤结果的影响:多机构队列分析
Karenna J Groff1, Ruchit V Patel2, Yang Feng3
1Department of Neurosurgery, NYU Langone Health and NYU Grossman School of Medicine, New York, NY, USA; Department of Pathology, NYU Langone Health and NYU Grossman School of Medicine, New York, NY, USA.
The Lancet. Oncology
|September 4, 2025
概括
脑膜瘤中的TERT促进基因突变并不总是表示具有攻击性的瘤. CDKN2A/B损失是预测预后的关键因素,特别是在世卫组织2级脑膜瘤中.
科学领域:
- 神经瘤学
- 分子病理学
- 基因组学
背景情况:
- 分子异常越来越多地用于脑膜瘤分类.
- TERT促成体 (TERTp) 突变与更差的预后和世卫组织3级指定有关.
- TERTp突变的预后影响可能取决于同时发生的基因变异.
研究的目的:
- 研究TERTp突变在脑膜瘤预后中的作用.
- 要确定TERTp突变是否依赖于环境.
- 为了指导TERTp测序的临床效用.
主要方法:
- 对1492名脑膜瘤患者进行多模式分析.
- 评估TERTp突变,CDKN2A/B损失和副本数量的变化.
- 卡普兰-梅尔曲线和多变量考克斯模型用于评估生存率和复发率.
主要成果:
- 在4. 3%的脑膜瘤中发现了TERTp突变.
- 有TERTp突变的脑膜瘤呈现异质分级和具有攻击性的分子特征,如1p和CDKN2A/B损失.
- CDKN2A/ B损失,而不是单独的TERTp突变,显著影响了整体存活率和无复发存活率.
结论:
- 单独的TERTp突变不足以确定最高级别的脑膜瘤.
- 当与其他分子标志物相结合时,TERT测序可以识别高风险的世卫组织2级脑膜瘤.
- 在TERTp突变脑膜瘤中,CDKN2A/B损失是攻击性行为的关键决定因素.
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