Schwannomatosis: a genetic and epidemiological study
Schwannomatosis: a genetic and epidemiological study
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DOI：
10.1136/jnnp-2018-318538
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发表时间：
2018-11-01
影响因子：
11
通讯作者：
Smith, Miriam J.
中科院分区：
文献类型：
--
作者：
Evans, D. Gareth;Bowers, Naomi L.;Smith, Miriam J.
目的神经鞘瘤病是一种显性遗传性疾病，易患神经鞘瘤，主要是脊髓和周围神经，与神经纤维瘤病-2（NF 2）有一些诊断重叠，但对潜在的流行病学知之甚少。我们目前的出生发病率和患病率允许重叠与NF 2。方法神经鞘瘤病和NF 2的情况下，确定从英格兰曼彻斯特地区（人口= 480万）和整个英国。点患病率和出生发病率是根据地区出生统计数据计算的。遗传分析也进行了NF 2，LZTR 1和SMARCB 1的血液和肿瘤DNA samples.Results区域神经鞘瘤病和NF 2的患病率分别为1在126 315和50 500，分别与计算的出生发病率为1在68 956和1在27 956。镶嵌性NF 2与神经鞘瘤病有很大重叠，导致至少9%的神经鞘瘤病病例误诊。LZTR 1相关的神经鞘瘤病也会导致少数病例误诊为NF 2（1%-2%），这是由于单侧前庭神经鞘瘤的发生。神经鞘瘤病患者的非前庭颅神经鞘瘤数量较少，但以疼痛为主要表现症状的周围神经和脊神经鞘瘤较多。预期寿命显着更好的神经鞘瘤病（平均死亡年龄76.9）相比，NF 2（平均死亡年龄66.2; P=0.004）。结论在高度确定的西北英格兰人口，神经鞘瘤病的出生发病率和患病率的NF 2的一半以下。
Objectives Schwannomatosis is a dominantly inherited condition predisposing to schwannomas of mainly spinal and peripheral nerves with some diagnostic overlap with neurofibromatosis-2 (NF2), but the underlying epidemiology is poorly understood. We present the birth incidence and prevalence allowing for overlap with NF2.Methods Schwannomatosis and NF2 cases were ascertained from the Manchester region of England (population=4.8 million) and from across the UK. Point prevalence and birth incidence were calculated from regional birth statistics. Genetic analysis was also performed on NF2, LZTR1 and SMARCB1 on blood and tumour DNA samples when available.Results Regional prevalence for schwannomatosis and NF2 were 1 in 126 315 and 50 500, respectively, with calculated birth incidences of 1 in 68 956 and 1 in 27 956. Mosaic NF2 causes a substantial overlap with schwannomatosis resulting in the misdiagnosis of at least 9% of schwannomatosis cases. LZTR1-associated schwannomatosis also causes a small number of cases that are misdiagnosed with NF2 (1%-2%), due to the occurrence of a unilateral vestibular schwannoma. Patients with schwannomatosis had lower numbers of non-vestibular cranial schwannomas, but more peripheral and spinal nerve schwannomas with pain as a predominant presenting symptom. Life expectancy was significantly better in schwannomatosis (mean age at death 76.9) compared with NF2 (mean age at death 66.2; p=0.004).Conclusions Within the highly ascertained North-West England population, schwannomatosis has less than half the birth incidence and prevalence of NF2.