Ren Yin, Chari Divya A, Vasilijic Sasa, Welling D Bradley, Stankovic Konstantina M
Department of Surgery, Division of Otolaryngology - Head and Neck Surgery, University of California San Diego School of Medicine, San Diego, California, USA.
Department of Otolaryngology Head and Neck Surgery, Harvard Medical School, Boston, Massachusetts, USA.
Neurooncol Adv. 2020 Nov 16;3(1):vdaa153. doi: 10.1093/noajnl/vdaa153. eCollection 2021 Jan-Dec.
Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder characterized by the development of multiple nervous system tumors due to mutation in the tumor suppressor gene. The hallmark feature of the NF2 syndrome is the development of bilateral vestibular schwannomas (VS). Although there is nearly 100% penetrance by 60 years of age, some patients suffer from a severe form of the disease and develop multiple tumors at an early age, while others are asymptomatic until later in life. Management options for VS include surgery, stereotactic radiation, and observation with serial imaging; however, currently, there are no FDA-approved pharmacotherapies for NF2 or VS. Recent advancements in the molecular biology underlying NF2 have led to a better understanding of the etiology and pathogenesis of VS. These novel signaling pathways may be used to identify targeted therapies for these tumors. This review discusses the clinical features and treatment options for sporadic- and NF2-associated VS, the diagnostic and screening criteria, completed and ongoing clinical trials, quality of life metrics, and opportunities for future research.
2型神经纤维瘤病（NF2）是一种罕见的常染色体显性疾病，其特征是由于肿瘤抑制基因突变导致多个神经系统肿瘤的发生。NF2综合征的标志性特征是双侧前庭神经鞘瘤（VS）的出现。尽管到60岁时几乎有100%的发病率，但一些患者患有严重形式的疾病，在早年就出现多个肿瘤，而另一些患者在生命后期才出现症状。VS的治疗选择包括手术、立体定向放射治疗和通过系列成像进行观察；然而，目前尚无FDA批准的用于NF2或VS的药物治疗方法。NF2潜在分子生物学的最新进展使人们对VS的病因和发病机制有了更好的理解。这些新的信号通路可用于识别针对这些肿瘤的靶向治疗方法。本综述讨论了散发性和NF2相关VS的临床特征和治疗选择、诊断和筛查标准、已完成和正在进行的临床试验、生活质量指标以及未来研究的机会。
