Background/Objectives: With the rise in prevalence of diagnostic genetic techniques like RNA sequencing and whole exome sequencing (WES), as well as biological treatment regiments for cancer therapy, several genes have been implicated in carcinogenesis. This review aims to update our understanding of the Neurofibromatosis 2 (NF2) gene and its role in the pathogenesis of various cancers.Methods: A comprehensive search of five online databases yielded 43 studies that highlighted the effect of sporadic NF2 mutations on several cancers, including sporadic meningioma, ependymoma, schwannoma, mesothelioma, breast cancer, hepatocellular carcinoma, prostate cancer, glioblastoma, thyroid cancer, and melanoma. Of note were key biological pathways implicated in cancer formation resulting from sporadic NF2 mutations.Results: NF2 gene mutations are implicated in over 11 different cancers, including several CNS tumors, soli-organ tumors, and skin cancer. NF2 acts as a driver mutation in some cancers, as a non-driver mutation in some cancers, and has simple associated mutations with other cancers. In terms of biological pathway involvement, 8 of the 11 cancers with NF2 mutations show evidence of Hippo signaling cascade involvement.Conclusions: Several cancers characterized by mutations in the NF2 gene have associations with the Hippo signaling pathway. However, future studies remain to be done to further elucidate the role of the Hippo signaling pathway in the carcinogenesis of human NF2-mutant tumors. The findings of this review provide insights into the role of NF2 mutations in cancers, Hippo signaling in NF2-mutant cancers, and current gaps in our knowledge regarding the two.
背景/目的：随着RNA测序和全外显子组测序等诊断性基因技术应用的日益普及，以及癌症生物治疗方案的不断发展，多种基因被证实与癌变过程相关。本综述旨在更新对神经纤维瘤病2型基因及其在多种癌症发病机制中作用的认识。 方法：通过对五个在线数据库的系统检索，共纳入43项研究，重点探讨了散发性NF2基因突变对多种癌症的影响，包括散发性脑膜瘤、室管膜瘤、神经鞘瘤、间皮瘤、乳腺癌、肝细胞癌、前列腺癌、胶质母细胞瘤、甲状腺癌和黑色素瘤。研究特别关注了由散发性NF2突变引发的癌症形成过程中的关键生物学通路。 结果：NF2基因突变与超过11种不同类型的癌症相关，包括多种中枢神经系统肿瘤、实体器官肿瘤和皮肤癌。在某些癌症中NF2突变发挥驱动作用，在另一些癌症中则作为非驱动突变，同时与其他癌症存在简单关联性突变。在生物学通路参与方面，11种存在NF2突变的癌症中有8种显示出Hippo信号级联通路参与的迹象。 结论：多种以NF2基因突变为特征的癌症与Hippo信号通路存在关联。然而，未来仍需进一步研究以阐明Hippo信号通路在人类NF2突变肿瘤癌变过程中的具体作用。本综述的研究结果深化了对NF2突变在癌症中的作用、NF2突变癌症中Hippo信号通路的参与机制，以及当前相关认知空白领域的理解。
Role ofNF2Mutation in the Development of Eleven Different Cancers
肿瘤(癌症)患者之家