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大脑活检和元基因组测序增强了脑炎的病因诊断
Yusuke Sakiyama1, Jun-Hui Yuan1, Akiko Yoshimura1
1Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, 890-8520, Japan.
Brain communications
|May 9, 2025
概括
大脑组织的元基因组下一代测序 (mNGS) 成功确定了中枢神经系统 (CNS) 疾病的传染性和非传染性原因. 这种先进的诊断方法改善了患者治疗和脑炎病例的结果.
科学领域:
- 神经学 神经学
- 传染性疾病 传染性疾病
- 基因组学就是基因组学.
背景情况:
- 诊断中枢神经系统 (CNS) 疾病,无论是传染性还是非传染性,都是具有挑战性的.
- 下一代测序 (NGS) 提供了对生物标本的敏感,公正的选.
- 甲基因组NGS (mNGS) 是一种强大的工具,用于识别复杂样本中的病原体.
研究的目的:
- 使用mNGS. 在怀疑感染的患者中研究中枢神经系统疾病的病因学.
- 评估mNGS对大脑组织的实用性,用于诊断脑炎和类似脑炎的疾病.
- 为了将诊断发现与临床结果和治疗调整相关联.
主要方法:
- 收集了33名脑炎或类似疾病患者的脑组织样本 (2013年4月 - 2021年10月).
- 在组织样本上进行了元基因学NGS (mNGS).
- 使用PCR测定和免疫染来确认病原体;还进行了病理学评估.
主要成果:
- mNGS在7例 (21.2%) 病原体特定序列中发现了病原体,包括古生物,Balamuthia mandrillaris,爱斯坦-巴尔病毒,Toxoplasma gondii和简单疹病毒.
- 在14例 (42.4%) 病例中,mNGS排除了已知的病原体,揭示了非传染性中枢神经系统疾病,如瘤,自身免疫/炎症状况和粉样血管病变.
- 基于mNGS结果的治疗调整导致了改善的临床症状,成像和预后.
结论:
- 大脑活检是无偏高通量测序的宝贵来源.
- 脑组织上的mNGS显著提高了未知病因的中枢神经系统疾病的诊断率.
- mNGS对于指导临床实践中的精确治疗干预至关重要.
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