Neurofibroma and schwannoma
Neurofibroma and schwannoma
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DOI：
10.1097/00019052-200212000-00004
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发表时间：
2002-12-01
影响因子：
4.8
通讯作者：
O'Doherty, MJ
中科院分区：
文献类型：
--
作者：
Ferner, RE;O'Doherty, MJ
综述目的神经纤维瘤和神经鞘瘤是良性的周围神经鞘肿瘤，作为孤立的散发性病变发生，但其主要临床影响的神经皮肤疾病神经纤维瘤病1和神经纤维瘤病2。基因产物neurofibromin和merlin（schwannomin）分别被认为是肿瘤抑制剂。本文就神经纤维瘤病中神经纤维瘤和神经鞘瘤的临床特点和发病机制作一综述，并对近年来神经纤维瘤的动物模型研究进展进行综述，以阐明神经纤维瘤的发病机制，证实神经纤维瘤的形成是由神经鞘细胞启动的。新的数据表明，患有神经纤维瘤病1的个体有10%的终身风险发生恶性外周神经鞘瘤。正电子发射断层扫描与葡萄糖类似物18-氟脱氧葡萄糖可能有助于恶性周围神经鞘肿瘤的诊断。这种与神经纤维瘤病1相关的肿瘤显示神经纤维瘤病1表达的缺失和高水平的Ras，但恶性转化需要额外的遗传事件，这些遗传事件破坏了细胞周期调节因子。神经纤维瘤病2型相关的前庭神经鞘瘤有不同的生长速度，随着年龄的增长而下降。小肿瘤的早期显微手术可以最佳地保留听力和面神经功能。目前，放射外科治疗这些病变产生类似的结果。对两组患者进行系统随访，确定最佳治疗方法。Merlin作为肿瘤抑制剂的功能尚未阐明。细胞周期的进展和异常的细胞内和细胞外信号的控制都可以发挥一部分。SummaryMolecular的进步将允许生物学方法的神经纤维瘤，恶性外周神经鞘瘤和神经鞘瘤的靶向治疗。这些肿瘤的发病机制的知识将有影响，我们了解的神经纤维瘤病和形成的散发性肿瘤。
Purpose of reviewNeurofibromas and schwannomas are benign peripheral nerve sheath tumours that occur as isolated sporadic lesions, but have their major clinical impact on the neurocutaneous diseases neurofibromatosis 1 and neurofibromatosis 2. The gene products neurofibromin and merlin (schwannomin), respectively, are thought to act as tumour suppressors. The aim of this review is to document recent advances in our understanding of the clinical characteristics and pathogenesis of neurofibromas and schwannomas in the neurofibromatoses.Recent findingsAnimal models have shed light on the pathogenesis of neurofibromas confirming that the Schwann cell initiates neurofibroma formation. New data suggest that individuals with neurofibromatosis 1 have a 10% lifetime risk of developing malignant peripheral nerve sheath tumours. Positron emission tomography with the glucose analogue 18-fluorodeoxyglucose might be helpful in the diagnosis of malignant peripheral nerve sheath tumours. Such tumours associated with neurofibromatosis 1 show a loss of neurofibromatosis 1 expression and high levels of Ras, but malignant transformation requires additional genetic events that inactivate key cell cycle regulators. Neurofibromatosis 2-associated vestibular schwannomas have variable growth rates that tend to decline with age. Early microsurgery for small tumours results in optimal preservation of hearing and facial nerve function. Currently, radiosurgery for these lesions produces similar results. Systematic follow-up of both groups will determine the best treatment method. Merlin's function as a tumour suppressor has not been elucidated. The control of cell cycle progression and abnormal intracellular and extracellular signalling could all play a part.SummaryMolecular advances will allow a biological approach to targeted therapies for neurofibromas, malignant peripheral nerve sheath tumours and schwannomas. Knowledge of the pathogenesis of these tumours will have implications for our understanding of the neurofibromatoses and of the formation of sporadic tumours.