2型神经纤维瘤病(NF2)基因,已知编码肿瘤抑制蛋白Merlin,是研究肿瘤发生和相关细胞过程的核心。这篇综述全面考察了NF2/Merlin的多方面作用,详细说明其结构特征,功能多样性,并参与各种信号通路,如Wnt/β-catenin,河马,TGF-β,RTKs,mTOR,缺口,还有刺猬.这些途径对细胞生长至关重要,扩散,和差异化。NF2突变与神经鞘瘤的发展特别相关,脑膜瘤,室管膜瘤,尽管这些特定细胞类型中肿瘤形成的确切机制仍不清楚。此外,这篇综述探讨了梅林在胚胎发育中的作用,强调NF2缺乏引起的严重发育缺陷和胚胎致死性。还讨论了针对这些遗传畸变的潜在治疗策略,强调mTOR的抑制剂,HDAC,和VEGF作为有希望的治疗途径。当前知识的综合强调了正在进行的研究的必要性,以阐明NF2/Merlin的详细机制并制定有效的治疗策略。最终旨在改善NF2突变个体的预后和生活质量。
The neurofibromatosis type 2 (NF2) gene, known for encoding the tumor suppressor protein Merlin, is central to the study of tumorigenesis and associated cellular processes. This review comprehensively examines the multifaceted role of NF2/Merlin, detailing its structural characteristics, functional diversity, and involvement in various signaling pathways such as Wnt/β-catenin, Hippo, TGF-β, RTKs, mTOR, Notch, and Hedgehog. These pathways are crucial for cellular growth, proliferation, and differentiation. NF2 mutations are specifically linked to the development of schwannomas, meningiomas, and ependymomas, although the precise mechanisms of tumor formation in these specific cell types remain unclear. Additionally, the review explores Merlin\'s role in
embryogenesis, highlighting the severe developmental defects and embryonic lethality caused by NF2 deficiency. The potential therapeutic strategies targeting these genetic aberrations are also discussed, emphasizing inhibitors of mTOR, HDAC, and VEGF as promising avenues for treatment. This synthesis of current knowledge underscores the necessity for ongoing research to elucidate the detailed mechanisms of NF2/Merlin and develop effective therapeutic strategies, ultimately aiming to improve the prognosis and quality of life for individuals with NF2 mutations.