The clinical, genetic, and immune landscape of meningioma in patients with NF2-schwannomatosis.
The clinical, genetic, and immune landscape of meningioma in patients with NF2-schwannomatosis.
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DOI：
10.1093/noajnl/vdac127
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发表时间：
2023-05
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NF 2神经鞘瘤病是脑膜瘤最常见的遗传易感综合征。NF 2-神经鞘瘤病中的脑膜瘤是发病率和死亡率的主要来源。这是由于同时性神经鞘瘤和室管膜瘤患者的累积肿瘤负荷，有时包括复杂的碰撞肿瘤。平衡多种干预措施对各种指标肿瘤的自然史的影响，以及个体一生中新发肿瘤的持续风险，使得决策变得复杂。任何一个脑膜瘤的治疗通常都不同于类似的散发性肿瘤。通常更强调保守管理和耐受生长，直到达到风险边界，从而威胁到症状恶化或预期未来治疗的更高风险。高容量多学科团队的管理提高了生活质量和预期寿命。手术仍然是有症状和迅速扩大的脑膜瘤的主要治疗方法。放射治疗具有重要作用，但与其在散发性疾病中的使用相比，其风险更高。虽然贝伐单抗对NF 2相关神经鞘瘤和囊性室管膜瘤有效，但对脑膜瘤的治疗没有价值。在这篇综述中，我们描述了疾病的自然史，潜在的遗传，分子和免疫微环境的变化，目前的管理模式，和潜在的治疗靶点。
NF2-schwannomatosis is the most common genetic predisposition syndrome associated with meningioma. Meningioma in NF2-schwannomatosis is a major source of morbidity and mortality. This is due to accumulative tumor burden in patients with synchronous schwannomas and ependymomas, sometimes including complex collision tumors. Balancing the impact of multiple interventions against the natural history of various index tumors, and the ongoing risk of de novo tumors over an individual’s lifetime makes decision-making complex. The management of any given individual meningioma is often different from a comparable sporadic tumor. There is typically a greater emphasis on conservative management and tolerating growth until a risk boundary is reached, whereby symptomatic deterioration or higher risk from anticipated future treatment is threatened. Management by high-volume multidisciplinary teams improves quality of life and life expectancy. Surgery remains the mainstay treatment for symptomatic and rapidly enlarging meningioma. Radiotherapy has an important role but carries a higher risk compared to its use in sporadic disease. Whilst bevacizumab is effective in NF2-associated schwannoma and cystic ependymoma, it has no value in the management of meningioma. In this review, we describe the natural history of the disease, underlying genetic, molecular, and immune microenvironment changes, current management paradigms, and potential therapeutic targets.