Xiao Guang-Hui, Chernoff Jonathan, Testa Joseph R
Human Genetics Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
Genes Chromosomes Cancer. 2003 Dec;38(4):389-99. doi: 10.1002/gcc.10282.
Neurofibromatosis type II (NF2) is an autosomal dominant cancer syndrome characterized by the formation of tumors of the nervous system, particularly schwannomas and meningiomas. The NF2 gene is also implicated in the development of sporadic schwannomas and meningiomas, as well as tumor types seemingly unrelated to the NF2 disorder, such as malignant mesotheliomas. Inactivation of NF2 occurs by a "two-hit" mechanism, as proposed by Al Knudson, and the NF2 gene behaves as a classical tumor suppressor gene. The NF2 gene product, merlin, exhibits homology with the ezrin-radixin-moesin family of membrane-cytoskeleton-linking proteins. During the past several years, there has been intensive investigation aimed at elucidating the mechanisms underlying merlin's functions. In this review, we summarize the involvement of NF2 inactivation in tumorigenesis. We also discuss observations implicating merlin in cell motility and cell proliferation, with a focus on recent findings linking merlin to Rac signaling.
神经纤维瘤病2型(NF2)是一种常染色体显性癌症综合征,其特征是形成神经系统肿瘤,特别是神经鞘瘤和脑膜瘤。NF2基因也与散发性神经鞘瘤和脑膜瘤的发生有关,以及与NF2疾病看似无关的肿瘤类型,如恶性间皮瘤。如Al Knudson所提出的,NF2的失活通过“两次打击”机制发生,并且NF2基因表现为经典的肿瘤抑制基因。NF2基因产物merlin与膜 - 细胞骨架连接蛋白的埃兹蛋白 - 根蛋白 - 莫伊塞恩家族具有同源性。在过去几年中,人们进行了深入研究,旨在阐明merlin功能的潜在机制。在本综述中,我们总结了NF2失活在肿瘤发生中的作用。我们还讨论了涉及merlin在细胞运动和细胞增殖中的观察结果,重点是将merlin与Rac信号传导联系起来的最新发现。