Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2.
Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2.
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DOI：
10.1002/ajmg.a.34359
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发表时间：
2012-01-01
期刊：
影响因子：
--
通讯作者：
Giovannini, Marco
中科院分区：
文献类型：
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作者：
Blakeley, Jaishri O;Evans, D Gareth;Giovannini, Marco
神经纤维瘤病2型（NF 2）是一种肿瘤抑制综合征，其特征是双侧前庭神经鞘瘤（VS），尽管积极治疗，但仍常导致耳聋。脑膜瘤、室管膜瘤和其他颅神经和外周神经鞘瘤也常见于NF2，共同导致主要的神经系统发病率和死亡率。传统上，NF2患者在诊断后20年的总生存率估计为38%。因此，迫切需要新的有效疗法。最近的进展，在了解NF 2相关肿瘤的分子基础上，有助于确定潜在的治疗靶点和新兴的临床治疗。2010年6月，国际NF2研究和临床社区的代表在D. Gareth Evans（曼彻斯特大学）和Marco Giovannini（House研究所）审查NF2治疗和临床试验的状态。这篇手稿总结了专家对目前NF2相关肿瘤治疗的意见，以及会议上提出的推进治疗的建议。NF2相关肿瘤的有效疗法的开发不仅对NF2患者而且对数千名患有这些肿瘤的神经肿瘤患者具有显著的临床进展潜力。
Neurofibromatosis type 2 (NF2) is a tumor suppressor syndrome characterized by bilateral vestibular schwannomas (VS) which often result in deafness despite aggressive management. Meningiomas, ependymomas, and other cranial nerve and peripheral schwannomas are also commonly found in NF2 and collectively lead to major neurologic morbidity and mortality. Traditionally, the overall survival rate in patients with NF2 is estimated to be 38% at 20 years from diagnosis. Hence, there is a desperate need for new, effective therapies. Recent progress in understanding the molecular basis of NF2 related tumors has aided in the identification of potential therapeutic targets and emerging clinical therapies. In June 2010, representatives of the international NF2 research and clinical community convened under the leadership of Drs. D. Gareth Evans (University of Manchester) and Marco Giovannini (House Research Institute) to review the state of NF2 treatment and clinical trials. This manuscript summarizes the expert opinions about current treatments for NF2 associated tumors and recommendations for advancing therapies emerging from that meeting. The development of effective therapies for NF2 associated tumors has the potential for significant clinical advancement not only for patients with NF2 but for thousands of neuro-oncology patients afflicted with these tumors.