Ⅱ型神经纤维瘤病合并多类型肿瘤的最新研究进展

Recent advance in neurofibromatosis 2 with multi-type tumors

Ⅱ型神经纤维瘤病患者常合并多种神经系统肿瘤,包括神经鞘瘤、脑(脊)膜瘤、星形细胞瘤和室管膜瘤等,其中双侧前庭神经鞘瘤是特征性病变。90%以上的Ⅱ型神经纤维瘤病家族性病例和80%~85%散发性病例均被证实肿瘤组织和血液中同时存在Ⅱ型神经纤维瘤病基因突变。本文围绕Ⅱ型神经纤维瘤病与不同类型肿瘤的关系及其发病情况、自然病史和最新治疗策略进行综述,以期为Ⅱ型神经纤维瘤病合并多类型肿瘤患者的诊治提供新线索。

Patients with type Ⅱ neurofibromatosis often have multiple neurological tumors, including schwannoma, meningioma, astrocytoma and ependymoma, of which bilateral vestibular schwannoma is characteristic lesion. More than 90%of familial cases and 80%-85%of sporadic cases of type Ⅱ neurofibromatosis have been confirmed to have neurofibromatosis Ⅱ gene mutations in both tumor tissues and blood. This article reviews the relation of type Ⅱ neurofibromatosis with different types of tumors, and the incidence, natural history and latest treatment strategies of type Ⅱ neurofibromatosis, in order to provide new clues for diagnoses and treatments of patients with type Ⅱ neurofibromatosis complicated with multi-type tumors.