患有BAP1瘤倾向综合征的患者中高频率和独特的脑膜瘤亚型
Kaylee A Ramsey1, Lindsey Byrne2, Olivia B Taylor1
1Havener Eye Institute, Department of Ophthalmology and Visual Sciences, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
medRxiv : the preprint server for health sciences
|December 18, 2025
概括
BAP1-瘤倾向综合征 (BAP1-TPDS) 与脑膜瘤有关,通常是45岁左右诊断的高度瘤. 建议从青春期开始对BAP1-TPDS患者进行早期椎成像监测.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 神经学 神经学
背景情况:
- BAP1-瘤倾向综合征 (BAP1-TPDS) 是一种罕见的遗传疾病.
- 它主要与毛膜黑色素瘤,皮肤黑色素瘤,恶性间皮质瘤和细胞癌有关.
- 在BAP1-TPDS患者中也观察到不太常见的癌症.
研究的目的:
- 调查BAP1-TPDS和脑膜瘤之间的关联.
- 描述BAP1-TPDS患者脑膜瘤的临床和病理特征.
主要方法:
- 在两个独立的患者队列中,对脑膜瘤进行了回顾性图表审查,这些患者具有生殖线BAP1致病或可能致病 (P/LP) 变异.
- 在具有生殖系BAP1 (P/LP) 变异的个体中对脑膜瘤病例研究的文献综述.
主要成果:
- 在237名BAP1-TPDS患者中,6.8%的人有脑膜瘤病史,诊断时的平均年龄为45.8岁.
- 在现有的脑膜瘤病理样本中,61.5%为II/III级.
- 83.3%的可用瘤组织显示BAP1双基失活,18.8%的患者有脑膜瘤家族病史.
结论:
- 高度大脑和脊髓脑膜瘤是BAP1-TPDS临床谱的一部分.
- 在BAP1-TPDS患者中,应考虑从青春期左右开始对骨脊髓成像监测.
- 早期检测和管理可以改善BAP1-TPDS患者的结果.
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