单细胞性脑膜炎复杂化细胞体和对MEK抑制剂的反应:一个病例系列
Tom Abrassart1,2, Ahmed Idbaih3, Damien Roos-Weil4
1Service de médecine interne 2, Centre de référence des histiocytoses, Sorbonne Université, Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France. tom.abrassart@hubruxelles.be.
Annals of hematology
|March 25, 2025
概括
单细胞性脑膜炎可以表明中枢神经系统 (CNS) 细胞,即使是正常的脑脊液 (CSF) 分析. 针对性抗MEK疗法对中枢神经系统细胞形成有前途,不论已发现的突变如何.
科学领域:
- 神经学 神经学
- 在瘤学瘤学.
- 病理学 病理学 病理学
背景情况:
- 中枢神经系统 (中枢神经系统) 的参与在囊细胞形成中是常见的,但通常与正常的脑脊液 (CSF) 发现一起呈现.
- 单细胞性脑膜炎是中枢神经系统细胞形成的一个罕见但显著的表现.
研究的目的:
- 突出显示单细胞性脑膜炎和囊细胞病变之间的关联.
- 评估针对中枢神经系统细胞形成的向疗法的疗效.
主要方法:
- 三名患者的病例系列,包括囊细胞和中枢神经系统的参与.
- 对单细胞细胞和分子突变 (MAP2K1) 的CSF分析.
- 临床表现与神经成像 (MRI) 和治疗反应的相关性.
主要成果:
- 呈现了三种单细胞性脑膜炎在囊细胞发生的病例 (埃尔海姆-切斯特病,中枢神经系统原发性恶性囊细胞发生,混合ECD/罗莎伊-多夫曼病).
- 在一个患者的CSF单细胞中发现了MAP2K1突变,证实了克隆透.
- 针对性抗MEK疗法 (binimetinib,cobimetinib) 证明了中枢神经系统症状的临床改善.
结论:
- 单细胞性脑膜炎应该引起对中枢神经系统囊细胞瘤的怀疑,特别是在具有特征的临床症状的情况下.
- 脑液分析和液体活检可以是有价值的诊断工具,有可能避免侵入性脑膜活检.
- 分子分析对于指导向治疗至关重要,但其缺失不应阻止考虑抗MEK治疗.
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