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Abstract：
NF2-related schwannomatosis (NF2) is a genetic syndrome characterized by the growth of benign tumors in the nervous system, particularly bilateral vestibular schwannomas, meningiomas, and ependymomas. This review consolidates the current knowledge on NF2 syndrome, emphasizing the molecular pathology associated with the mutations in the gene of the same name, the NF2 gene, and the subsequent dysfunction of its product, the Merlin protein. Merlin, a tumor suppressor, integrates multiple signaling pathways that regulate cell contact, proliferation, and motility, thereby influencing tumor growth. The loss of Merlin disrupts these pathways, leading to tumorigenesis. We discuss the roles of another two proteins potentially associated with NF2 deficiency as well as Merlin: Yes-associated protein 1 (YAP), which may promote tumor growth, and Raf kinase inhibitory protein (RKIP), which appears to suppress tumor development. Additionally, this review discusses the efficacy of various treatments, such as molecular therapies that target specific pathways or inhibit neomorphic protein-protein interaction caused by NF2 deficiency. This overview not only expands on the fundamental understanding of NF2 pathophysiology but also explores the potential of novel therapeutic targets that affect the clinical approach to NF2 syndrome.
摘要：
NF2相关神经鞘瘤病（NF2）是一种遗传综合征，其特征是神经系统良性肿瘤的生长，尤其是双侧前庭神经鞘瘤，脑膜瘤,和室管膜瘤.这篇综述巩固了目前关于NF2综合征的知识，强调与同名基因突变相关的分子病理学，NF2基因,以及其产品随后的功能障碍，Merlin蛋白.梅林,肿瘤抑制剂，整合了多个调节细胞接触的信号通路，扩散,和运动性，从而影响肿瘤生长。梅林的消失破坏了这些途径，导致肿瘤发生。我们讨论了另外两种可能与NF2缺乏症以及Merlin相关的蛋白质的作用：Yes相关蛋白1（YAP），这可能会促进肿瘤生长，和Raf激酶抑制蛋白（RKIP），这似乎抑制了肿瘤的发展。此外,这篇综述讨论了各种治疗方法的疗效，例如靶向特定途径或抑制NF2缺乏引起的新形态蛋白-蛋白相互作用的分子疗法。本概述不仅扩展了对NF2病理生理学的基本理解，而且还探讨了影响NF2综合征临床方法的新型治疗靶标的潜力。
