2 型神经纤维瘤病 (NF2) 基因因编码肿瘤抑制蛋白 Merlin 而闻名，是肿瘤发生和相关细胞过程研究的核心。本综述全面考察了 NF2/Merlin 的多方面作用，详细介绍了其结构特征、功能多样性以及参与多种信号通路（例如 Wnt/β-catenin、Hippo、TGF-β、RTK、mTOR、Notch 和 Hedgehog）。这些途径对于细胞生长、增殖和分化至关重要。 NF2 突变与神经鞘瘤、脑膜瘤和室管膜瘤的发展密切相关，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，该综述还探讨了 Merlin 在胚胎发生中的作用，强调了 NF2 缺陷导致的严重发育缺陷和胚胎致死。还讨论了针对这些遗传畸变的潜在治疗策略，强调 mTOR、HDAC 和 VEGF 抑制剂是有希望的治疗途径。对当前知识的综合强调了持续研究的必要性，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。© 2024 美国实验学会联合会生物学。

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.© 2024 Federation of American Societies for Experimental Biology.