New developments in neurofibromatosis type 2 and vestibular schwannoma.
New developments in neurofibromatosis type 2 and vestibular schwannoma.
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DOI：
10.1093/noajnl/vdaa153
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发表时间：
2021-01
期刊：
影响因子：
--
通讯作者：
Stankovic KM
中科院分区：
文献类型：
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作者：
Ren Y;Chari DA;Vasilijic S;Welling DB;Stankovic KM
2 型神经纤维瘤病 (NF2) 是一种罕见的常染色体显性遗传疾病，其特征是由于 NF2 抑癌基因突变而导致多发性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) 的发展。尽管到 60 岁的时候外显率接近 100%，但有些患者患有严重的疾病，并在很小的时候就出现多发性肿瘤，而另一些患者则直到晚年才出现症状。 VS 的治疗选择包括手术、立体定向放射和连续成像观察；然而，目前尚无 FDA 批准的 NF2 或 VS 药物疗法。 NF2 分子生物学的最新进展使人们更好地了解 VS 的病因和发病机制。这些新的信号传导途径可用于识别这些肿瘤的靶向治疗。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。
Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder characterized by the development of multiple nervous system tumors due to mutation in the NF2 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.