Multiple meningiomas:: differential involvement of the NF2 gene in children and adults
Multiple meningiomas:: differential involvement of the NF2 gene in children and adults
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DOI：
10.1136/jmg.2004.023705
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发表时间：
2005-01-01
影响因子：
4
通讯作者：
Baser, ME
中科院分区：
文献类型：
--
作者：
Evans, DGR;Watson, C;Baser, ME
目的：筛查脑膜瘤患者中的 NF2 突变。方法：对来自 36 个家庭的 46 名个体的淋巴细胞或肿瘤 DNA 进行分析，这些个体在年龄小于或等于 15 岁时就患有脑膜瘤，但没有前庭神经鞘瘤 (VS)，或者在诊断 VS 之前在成年期患有多发性脑膜瘤。结果：13 名脑膜瘤患者中有 8 名患有神经纤维瘤病 2 ( NF2）在血液 DNA 中发现了一种宪法性 NF2 突变，但其他受试者均未鉴定出宪法性 NF2 突变。结论：宪法性 NF2 突变是儿童和脑膜瘤加上 NF2 的其他非 VS 特征的患者脑膜瘤的最可能原因。马赛克型 NF2 可能是散发性成人病例中约 8% 的多发性脑膜瘤的病因，但大多数其他此类患者和家族中的多发性脑膜瘤还有其他原因。
Objective: To screen for NF2 mutations in people with meningiomas.Methods: Lymphocyte or tumour DNA was analysed from 46 individuals from 36 families who presented with a meningioma at age less than or equal to 15 years without vestibular schwannoma ( VS), or who had multiple meningiomas in adulthood before the diagnosis of VS.Results: Eight of 13 people with meningioma and other features of neurofibromatosis 2 ( NF2) had an identified constitutional NF2 mutation in blood DNA, but none of the other subjects had identified constitutional NF2 mutations.Conclusions: Constitutional NF2 mutations are the most likely cause of meningioma in children and in people with a meningioma plus other non- VS features of NF2. Mosaic NF2 may be the cause of about 8% of multiple meningiomas in sporadic adult cases, but there are other causes in the majority of other such patients and in multiple meningioma in families.