...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations
【24h】

Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations

机译：芳烃受体相互作用蛋白基因突变引起垂体腺瘤的分子诊断

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

Pituitary adenomas are common neoplasms of the anterior pituitary gland. Germ-line mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene cause pituitary adenoma predisposition (PAP), a recent discovery based on genetic studies in Northern Finland. In this population, a founder mutation explained a significant proportion of all acromegaly cases. Typically, PAP patients were of a young age at diagnosis but did not display a strong family history of pituitary adenomas. To evaluate the role of AIP in pituitary adenoma susceptibility in other populations and to gain insight into patient selection for molecular screening of the condition, we investigated the possible contribution of AIP mutations in pituitary tumorigenesis in patients from Europe and the United States. A total of 460 patients were investigated by AIP sequencing: young acromegaly patients, unselected acromegaly patients, unselected pituitary adenoma patients, and endocrine neoplasia-predisposition patients who were negative for MEN1 mutations. Nine AIP mutations were identified. Because many of the patients displayed no family history of pituitary adenomas, detection of the condition appears challenging. Feasibility of AIP immunohistochemistry (IHC) as a prescreening tool was tested in 50 adenomas: 12 AIP mutation-positive versus 38 mutation-negative pituitary tumors. AIP IHC staining levels proved to be a useful predictor of AIP status, with 75%' sensitivity and 95% specificity for germ-line mutations. AIP contributes to PAP in all studied populations. AIP IHC, followed by genetic counseling and possible AIP mutation analysis in IHC-negative cases, a procedure similar to the diagnostics of the Lynch syndrome, appears feasible in identification of PAP.
机译：垂体腺瘤是垂体前叶的常见肿瘤。芳烃受体相互作用蛋白（AIP）基因中的生殖系突变会导致垂体腺瘤易感性（PAP），这是基于在芬兰北部进行的遗传研究的最新发现。在这个人群中，创始人突变解释了所有肢端肥大症病例中的很大一部分。通常，PAP患者在诊断时年龄较小，但未表现出强烈的垂体腺瘤家族史。为了评估AIP在其他人群中垂体腺瘤易感性中的作用，并深入了解患者选择该病的分子筛查条件，我们调查了欧洲和美国患者AIP突变在垂体肿瘤发生中的可能作用。通过AIP测序对总共460例患者进行了调查：年轻的肢端肥大症患者，未选择的肢端肥大症患者，未选择的垂体腺瘤患者和对MEN1突变呈阴性的内分泌肿瘤易感患者。鉴定出九个AIP突变。由于许多患者没有垂体腺瘤家族史，因此对该病的检测似乎具有挑战性。在50例腺瘤中测试了AIP免疫组织化学（IHC）作为预筛查工具的可行性：12例AIP突变阳性与38例突变阴性的垂体瘤。 AIP IHC染色水平被证明是AIP状态的有用预测指标，对种系突变的敏感性为75％，特异性为95％。 AIP对所有研究人群的PAP都有贡献。在IHC阴性病例中进行AIP IHC，然后进行遗传咨询和可能的AIP突变分析，该程序类似于Lynch综合征的诊断，在鉴定PAP方面似乎是可行的。

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