Hiruta Ryo, Fujii Masazumi
Department of Neurosurgery, Fukushima Medical University.
No Shinkei Geka. 2022 Jan;50(1):150-161. doi: 10.11477/mf.1436204540.
Neurofibromatosis type 2(NF2)is a hereditary condition that causes bilateral vestibular schwannomas(VS), multiple schwannomas, and meningiomas. The prognosis is poor because the multiplicity of the tumors leads to a progressive decline in the quality of life, deafness, and death in an early age. NF2 is caused by a disorder in the tumor suppressor gene , which encodes the merlin protein. Although it is an autosomal dominant disease, more than half of cases are presumed to be de novo caused by somatic mosaicism, the diagnosis rate of which has been improved by the recently introduced technology of targeted deep sequencing of DNA from multiple tissues. No chemotherapeutic drugs for treating NF2-related VS are available at present, and surgery and radiotherapy remain the only therapeutic options. Recently, a randomized, double-blind, multicenter clinical trial has started in Japan to verify the efficacy and safety of bevacizumab, a humanized monoclonal antibody that targets vascular endothelial growth factor, in treating NF2-related VS.
2型神经纤维瘤病（NF2）是一种遗传性疾病，可导致双侧前庭神经鞘瘤（VS）、多发性神经鞘瘤和脑膜瘤。由于肿瘤的多发性会导致生活质量逐渐下降、失聪，并在早年死亡，因此预后较差。NF2是由肿瘤抑制基因突变引起的，该基因编码默林蛋白。虽然它是一种常染色体显性疾病，但据推测，超过一半的病例是由体细胞镶嵌现象导致的新发突变，最近引入的多组织DNA靶向深度测序技术提高了该病的诊断率。目前尚无治疗NF2相关VS的化疗药物，手术和放疗仍然是唯一的治疗选择。最近，日本启动了一项随机、双盲、多中心临床试验，以验证贝伐单抗（一种靶向血管内皮生长因子的人源化单克隆抗体）治疗NF2相关VS的疗效和安全性。
