致病性生殖系变异在成年类型扩散性质瘤中的流行率
Malcolm F McDonald1,2, Lyndsey L Prather3, Cassandra R Helfer3
1Department of Neurosurgery, Baylor College of Medicine, Houston, Texas, USA.
Neuro-oncology practice
|September 18, 2023
概括
成人质瘤患者中有9.8%存在生殖系致病变体,特别是在质瘤,IDH野生类型. 这突显了遗传性癌症综合征诊断和改善患者管理的错过的机会.
科学领域:
- 神经瘤学神经瘤学
- 癌症遗传学 癌症遗传学
- 基因组医学是基因组医学.
背景情况:
- 目前缺乏关于在质瘤患者中进行生殖线检测的共识指南.
- 成人质瘤中生殖系致病变体的患病率在很大程度上是未知的.
- 生殖线变异可能在质瘤的发展和患者的结果中发挥作用.
研究的目的:
- 确定成年质瘤患者中生殖系致病变异的流行率.
- 确定在这个人群中发现的生殖系致病变体的类型.
- 探索这些发现对患者护理的临床影响.
主要方法:
- 一个单一机构的数据的回顾性审查.
- 从2018年8月到2022年4月对结合瘤和正常组织的测序.
- 收集和分析相应的临床数据.
主要成果:
- 分析了152名质瘤患者,15名 (9.8%) 患有生殖系致病变体.
- 患病率因质瘤亚型而异:质母细胞瘤,IDH野生型 (13.1%),星细胞瘤,IDH突变 (7.1%),质母细胞瘤,IDH突变 (3.8%).
- 最常见的是BRCA2,MUTYH和CHEK2变异;93%通过质瘤测序发现了变异.
结论:
- 显著比例的成年质瘤患者携带生殖系致病变体,这表明遗传性癌症综合征的识别被忽视的领域.
- 这些发现强调了对患者监测和治疗策略的潜在影响.
- 需要进一步的研究来阐明生殖系变异在质生成中的作用以及IDH野生类型和突变质瘤之间的差异.
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