Nouri Shervin Hosseingholi, Nitturi Vijay, Ledbetter Elizabeth, English Collin W, Lau Sean, Klisch Tiemo J, Patel Akash J
Department of Neurosurgery, Baylor College of Medicine, Houston, TX 77030, USA.
Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Cancers (Basel). 2024 Dec 29;17(1):64. doi: 10.3390/cancers17010064.
: 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. : 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. : 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. : 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.
随着RNA测序和全外显子组测序（WES）等诊断性基因技术的普及，以及癌症治疗的生物治疗方案的出现，一些基因已被认为与致癌作用有关。本综述旨在更新我们对神经纤维瘤病2（NF2）基因及其在各种癌症发病机制中的作用的理解。：对五个在线数据库进行全面检索后得到43项研究，这些研究强调了散发性NF2突变对几种癌症的影响，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。值得注意的是散发性NF2突变导致癌症形成所涉及的关键生物学途径。：NF2基因突变与超过11种不同的癌症有关，包括几种中枢神经系统肿瘤、实体器官肿瘤和皮肤癌。NF2在某些癌症中作为驱动突变，在某些癌症中作为非驱动突变，并且与其他癌症有简单的相关突变。在生物学途径参与方面，11种有NF2突变的癌症中有8种显示出Hippo信号级联参与的证据。：几种以NF2基因突变为特征的癌症与Hippo信号通路有关。然而，未来仍有待开展研究以进一步阐明Hippo信号通路在人类NF2突变肿瘤致癌作用中的作用。本综述的结果为NF2突变在癌症中的作用、NF2突变癌症中的Hippo信号以及我们在这两方面知识的当前空白提供了见解。
