Division of Neuro-Oncology, The Mount Sinai Hospital, 1 Gustave L. Levy Place, Box 1138, New York, NY, 10029, USA.
Director of the Neurofibromatosis Clinic at Mount Sinai, 1468 Madison Avenue Annenberg Building, 2nd FL, New York, NY, 10029, USA.
Curr Oncol Rep. 2023 Dec;25(12):1409-1417. doi: 10.1007/s11912-023-01451-z. Epub 2023 Oct 31.
Neurofibromatosis type I (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis represent a diverse group of genetic tumor predisposition syndromes with a shared feature of tumors affecting the peripheral nerve sheaths. PURPOSE OF REVIEW: Many advancements have been made in understanding the biologic underpinnings of these conditions, and in 2016 the first drug was approved by the FDA to treat pediatric symptomatic unresectable plexiform neurofibromas. RECENT FINDINGS: Mek inhibitors have provided a much-needed therapeutic avenue for NF1 patients with unresectable plexiform neurofibromas (PN), both for reduction of tumor bulk and for improvement in symptoms. Selumetinib is the first FDA approved drug for PN, but is only approved for children. Some research suggests that alternative Mek inhibitors and other mixed tyrosine kinase inhibitors may have better efficacy in adults. Vascular endothelial growth factor (VEGF) inhibitor bevacizumab can prolong hearing and delay the need for surgery in NF2 patients with bilateral vestibular schwannomas. This article provides an update regarding considerations and approaches when treating the tumors associated with the neurofibromatoses (NF), including risk and prognosis metrics, clinical trial results, surgical techniques, and radiation therapy recommendations.
神经纤维瘤病 1 型（NF1）、神经纤维瘤病 2 型（NF2）和许旺细胞瘤病代表了一组具有不同遗传肿瘤易感性综合征的肿瘤，其共同特征是影响周围神经鞘的肿瘤。目的综述：许多研究进展已经阐明了这些疾病的生物学基础，并且在 2016 年，第一种药物被 FDA 批准用于治疗儿科症状性不可切除丛状神经纤维瘤。最新发现：Mek 抑制剂为无法手术切除的丛状神经纤维瘤（PN）的 NF1 患者提供了急需的治疗途径，既可减少肿瘤体积，又可改善症状。司美替尼是第一种被 FDA 批准用于 PN 的药物，但仅适用于儿童。一些研究表明，替代 Mek 抑制剂和其他混合酪氨酸激酶抑制剂在成人中的疗效可能更好。血管内皮生长因子（VEGF）抑制剂贝伐单抗可延长 NF2 双侧前庭神经鞘瘤患者的听力并延迟手术需求。本文提供了有关治疗神经纤维瘤病（NF）相关肿瘤的注意事项和方法的最新信息，包括风险和预后指标、临床试验结果、手术技术和放射治疗建议。
