...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>The Laryngoscope: A Medical Journal for Clinical and Research Contributions in Otolaryngology, Head and Neck Medicine and Surgery, Facial Plastic and Reconstructive Surgery .. >Clinical manifestations of mutations in the neurofibromatosis type 2 gene in vestibular schwannomas (acoustic neuromas).
【24h】

Clinical manifestations of mutations in the neurofibromatosis type 2 gene in vestibular schwannomas (acoustic neuromas).

机译：前庭神经鞘瘤（声学神经瘤）中2型神经纤维瘤病基因突变的临床表现。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Vestibular schwannomas (acoustic neuromas) continue to cause significant facial nerve and hearing morbidity, despite marked improvement in diagnosis and treatment. Mutation of a tumor-suppressor gene on human chromosome 22 has been found to be associated with vestibular schwannoma formation. The central hypothesis of this study is that specific mutations in the neurofibromatosis type 2 (NF2) gene may produce specific clinical characteristics or phenotypic expressions. The purposes of this investigation are: 1. to determine what proportion of vestibular schwannomas from patients with spontaneous unilateral and familial bilateral schwannomas have mutations present within the NF2 gene; 2. to determine whether specific types of mutations are associated with a specific clinical manifestation of this disease; and 3. to further define the relationship between newly discovered mutations within the NF2 tumor-suppressor gene and possible clinical applications of this knowledge to advance diagnosis and treatment of patients with NF2 and spontaneous vestibular schwannomas. DNA from 61 schwannomas (29 unilateral vestibular schwannomas and 32 from patients with bilateral vestibular schwannomas [NF2]) were examined, and 33 unique mutations were identified. Significant differences were found in the frequency, distribution, and type of mutation between the NF2 schwannomas and the spontaneous vestibular schwannomas. Three clinical subtypes of NF2 were identified. In tumors from 28 patients, no mutations were identified. Of the 33 mutations identified in the NF2 gene, 30 were likely to result in loss of tumor-suppressor function from protein truncation; however, three milder mutations termed missense mutations were associated with milder clinical manifestations of the disease and had a slower estimated growth rate. Variable clinical presentation in patients whose tumors had severe or truncating types of mutations suggest that factors in addition to the mutation class are likely to be responsible for a portion of the clinical expression of disease. New diagnostic options are now available for NF2 that will improve the likelihood of hearing and facial nerve preservation and ultimately have significant impact on the management of vestibular schwannomas.
机译：尽管诊断和治疗有明显改善，但前庭神经鞘瘤（声神经瘤）仍继续引起重要的面神经和听力异常。已发现人类第22号染色体上的抑癌基因突变与前庭神经鞘瘤的形成有关。这项研究的中心假设是2型神经纤维瘤病（NF2）基因中的特定突变可能产生特定的临床特征或表型表达。这项研究的目的是：1.确定自发性单侧和家族性双侧神经鞘瘤患者中前庭神经鞘瘤的比例在NF2基因内是否存在突变; 2.确定特定类型的突变是否与该疾病的特定临床表现有关; 3.进一步确定NF2肿瘤抑制基因内新发现的突变与该知识可能的临床应用之间的关系，以促进对NF2和自发性前庭神经鞘瘤患者的诊断和治疗。检查了61个神经鞘瘤的DNA（29个单侧前庭神经鞘瘤和32个双侧前庭神经鞘瘤[NF2]患者的DNA），并鉴定了33个独特的突变。发现在NF2神经鞘瘤与自发性前庭神经鞘瘤之间的突变的频率，分布和类型上存在显着差异。确定了NF2的三种临床亚型。在来自28位患者的肿瘤中，未发现突变。在NF2基因中鉴定出的33个突变中，有30个可能由于蛋白质截断而导致肿瘤抑制功能的丧失。但是，三个轻度突变（称为错义突变）与该病的轻度临床表现有关，并且估计的生长速度较慢。肿瘤具有严重或截断类型的突变的患者中临床表现各异，这表明除突变类别外，其他因素也可能是疾病临床表达的一部分。现在，NF2有了新的诊断选项，可以提高听力和保留面神经的可能性，并最终对前庭神经鞘瘤的治疗产生重大影响。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号