Asthagiri Ashok R, Parry Dilys M, Butman John A, Kim H Jeffrey, Tsilou Ekaterini T, Zhuang Zhengping, Lonser Russell R
Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1414, USA.
Lancet. 2009 Jun 6;373(9679):1974-86. doi: 10.1016/S0140-6736(09)60259-2. Epub 2009 May 22.
Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndrome that results from mutations in the NF2 tumour suppressor gene located on chromosome 22q. It has a frequency of one in 25,000 livebirths and nearly 100% penetrance by 60 years of age. Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo mutation for neurofibromatosis type 2. Patients develop nervous system tumours (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), peripheral neuropathy, ophthalmological lesions (cataracts, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin tumours). Optimum treatment is multidisciplinary because of the complexities associated with management of the multiple, progressive, and protean lesions associated with the disorder. We review the molecular pathogenesis, genetics, clinical findings, and management strategies for neurofibromatosis type 2.
2型神经纤维瘤病是一种常染色体显性遗传的多发性肿瘤综合征，由位于22号染色体q臂上的NF2肿瘤抑制基因突变引起。其发病率为1/25000活产儿，到60岁时几乎100%发病。一半的患者从患病父母那里遗传了种系突变，其余患者则发生了2型神经纤维瘤病的新发突变。患者会出现神经系统肿瘤（神经鞘瘤、脑膜瘤、室管膜瘤、星形细胞瘤和神经纤维瘤）、周围神经病变、眼科病变（白内障、视网膜前膜和视网膜错构瘤）以及皮肤病变（皮肤肿瘤）。由于该疾病相关的多种、进行性和多变性病变的管理存在复杂性，最佳治疗方案是多学科的。我们综述了2型神经纤维瘤病的分子发病机制、遗传学、临床发现及管理策略。
