神经纤维瘤病Ⅱ型基因型与表型研究现况

神经纤维瘤病Ⅱ型(Neurofibromatosis Type 2,NF2)是一种常染色体显性肿瘤易感性综合征,典型临床表现为单侧或双侧听力下降,耳鸣和平衡障碍。前庭神经鞘瘤为该病特征,约95%患者出现双侧前庭神经鞘瘤,许多NF2患者也患有其他组织学上表现为良性的中枢神经系统肿瘤,如脑膜瘤和脊柱内室管膜瘤。该病是由22号染色体上NF2基因的遗传性突变或新发突变引起的。患者面临听力丧失,反复手术切除颅内和脊柱肿瘤,重要功能丧失以及预期寿命缩短。基于基因型与表型相关性研究,早期精准评估患者病情,为患者选择合适干预手段,提供预后相关依据具有重大意义。该篇归纳了NF2基因型与表型相关性研究中的主要进展。

Current Research on Genotype and Phenotype of Neurofibromatosis Type 2

Neurofibromatosis 2(NF2) is an autosomal-dominant tumor predisposition syndrome, which can manifest with unilateral or bilateral hearing loss, tinnitus and balance disorders. Vestibular schwannoma is a characteristic manifestation of the disease, and about 95% of patients present with bilateral vestibular schwannomas. Many patients with NF2 also have other histologically benign central nervous system tumors, such as meningiomas and spinal ependymomas. It is caused by inherited or de novo mutations in the NF2 gene on chromosome 22. Affected patients face acquired hearing loss, repeated major surgeries to resect cranial and spinal tumors, significant loss of function and reduced life expectancy. Studying the correlation between genotype and phenotype is of great significance to accurate assessment of the condition in the early stage and selection of appropriate interventions for patients, as well as providing reliable prognosis. This article summarizes major advances in the study of NF2 genotype and phenotype correlation.