Xu Duo, Yin Shiyuan, Shu Yongqian
Department of Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
NPJ Precis Oncol. 2024 Jun 15;8(1):133. doi: 10.1038/s41698-024-00627-5.
Neurofibromatosis type 2 (NF2) is a tumor suppressor gene implicated in various tumors, including mesothelioma, schwannomas, and meningioma. As a member of the ezrin, radixin, and moesin (ERM) family of proteins, merlin, which is encoded by NF2, regulates diverse cellular events and signalling pathways, such as the Hippo, mTOR, RAS, and cGAS-STING pathways. However, the biological role of NF2 in tumorigenesis has not been fully elucidated. Furthermore, cross-cancer mutations may exert distinct biological effects on tumorigenesis and treatment response. In addition to the functional inactivation of NF2, the codeficiency of other genes, such as cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B), BRCA1-associated protein-1 (BAP1), and large tumor suppressor 2 (LATS2), results in unique tumor characteristics that should be considered in clinical treatment decisions. Notably, several recent studies have explored the metabolic and immunological features associated with NF2, offering potential insights into tumor biology and the development of innovative therapeutic strategies. In this review, we consolidate the current knowledge on NF2 and examine the potential connection between cancer metabolism and tumor immunity in merlin-deficient malignancies. This review may provide a deeper understanding of the biological roles of NF2 and guide possible therapeutic avenues.
2型神经纤维瘤病(NF2)是一种肿瘤抑制基因,与多种肿瘤有关,包括间皮瘤、神经鞘瘤和脑膜瘤。作为埃兹蛋白、根蛋白和膜突蛋白(ERM)家族蛋白的成员,由NF2编码的默林蛋白调节多种细胞活动和信号通路,如Hippo、mTOR、RAS和cGAS-STING通路。然而,NF2在肿瘤发生中的生物学作用尚未完全阐明。此外,跨癌症突变可能对肿瘤发生和治疗反应产生不同的生物学效应。除了NF2的功能失活外,其他基因如细胞周期蛋白依赖性激酶抑制剂2A/B(CDKN2A/B)、BRCA1相关蛋白-1(BAP1)和大肿瘤抑制因子2(LATS2)的共缺陷会导致独特的肿瘤特征,在临床治疗决策中应予以考虑。值得注意的是,最近的几项研究探讨了与NF2相关的代谢和免疫特征,为肿瘤生物学和创新治疗策略的开发提供了潜在的见解。在这篇综述中,我们整合了关于NF2的现有知识,并研究了默林蛋白缺陷型恶性肿瘤中癌症代谢与肿瘤免疫之间的潜在联系。这篇综述可能会加深对NF2生物学作用的理解,并指导可能的治疗途径。