Concordance of Bilateral Vestibular Schwannoma Growth and Hearing Changes in Neurofibromatosis 2: Neurofibromatosis 2 Natural History Consortium
Concordance of Bilateral Vestibular Schwannoma Growth and Hearing Changes in Neurofibromatosis 2: Neurofibromatosis 2 Natural History Consortium
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DOI：
10.1097/mao.0b013e3181b2364c
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发表时间：
2009-09-01
影响因子：
2.1
通讯作者：
Slattery, William H.
中科院分区：
文献类型：
--
作者：
Fisher, Laurel M.;Doherty, Joni K.;Slattery, William H.
目的：研究神经纤维瘤病2型（NF 2）患者双侧前庭神经鞘瘤（VS）大小变化量与相关听力之间的关系。研究设计：对NF 2 patients.Subjects进行年度磁共振成像和听力学检查。磁共振成像和听力检查至少有2个时间点，间隔1年。32名男性和20名女性的平均诊断年龄为26岁（SD = 18）。在19例（37%）受试者中，NF 2种系突变不能在血液中识别（镶嵌）。结果测量：确定从第一次到第二次评估的2个肿瘤中的每一个的肿瘤大小的最大直径变化。使用多变量方差分析评估两侧之间的变化量和听力（4频纯音平均值）的差异。结果：总体而言，VS表现出显着的平均增长（p < 0.001），听力显着恶化（p < 0.001）超过1年。在每个患者中，较大肿瘤的变化量与较小肿瘤的变化量无关。前庭神经鞘瘤的大小变化与相应的听力变化无关（Kendall's tau，p =不显著[n.s.]）。结论：NF 2患者的VS大小和听力在1年内发生了显著变化。在临床上，肿瘤的变化或听力恶化的一个VS不能用来预测其他VS的变化。这表明，虽然NF 2是一种孟德尔疾病，生殖基因型-表型关系可能类似于复杂的疾病。
Objective: To examine the relationship between the amount of change in size and associated hearing in bilateral vestibular schwannomas (VSs) in persons with neurofibromatosis 2 (NF2).Study Design: Annual magnetic resonance imaging and audiological examinations were conducted on NF2 patients.Subjects: Fifty-two patients enrolled in the NF2 Natural History Consortium in whom both VSs were untreated. Magnetic resonance imaging and hearing exams were available for at least 2 time points 1 year apart. The 32 males and 20 females had a mean age at diagnosis of 26 years (SD = 18). In 19 (37%) subjects, the NF2 germline mutation could not be identified in the blood ( mosaic).Outcome Measures: Greatest diameter change in tumor size for each of the 2 tumors from first to second evaluation was determined. Differences in amounts of change between the 2 sides and in hearing (4-frequency pure-tone average) were evaluated using multivariate analysis of variance.Results: Overall, the VSs demonstrated significant average growth (p < 0.001), and hearing worsened significantly (p < 0.001) over 1 year. The amount of change in the bigger tumors was not associated with the amount of change in the smaller tumors within each patient. Vestibular schwannoma size changes were not associated with the corresponding hearing changes (Kendall's tau, p = not significant [n.s.]).Conclusion: A significant 1-year change in VS size and hearing occurred in NF2 patients. Clinically, tumor change or hearing deterioration on one VS cannot be used to predict changes in the other VS. This suggests that, although NF2 is a Mendelian disease, the germline genotype-phenotype relationship may resemble that of complex disorders.