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头颈部副神经节瘤的遗传学研究进展

王璞 夏寅

王璞, 夏寅. 头颈部副神经节瘤的遗传学研究进展[J]. 协和医学杂志, 2021, 12(6): 977-982. doi: 10.12290/xhyxzz.2021-0588
引用本文: 王璞, 夏寅. 头颈部副神经节瘤的遗传学研究进展[J]. 协和医学杂志, 2021, 12(6): 977-982. doi: 10.12290/xhyxzz.2021-0588
WANG Pu, XIA Yin. Genetics of Head and Neck Paragangliomas[J]. Medical Journal of Peking Union Medical College Hospital, 2021, 12(6): 977-982. doi: 10.12290/xhyxzz.2021-0588
Citation: WANG Pu, XIA Yin. Genetics of Head and Neck Paragangliomas[J]. Medical Journal of Peking Union Medical College Hospital, 2021, 12(6): 977-982. doi: 10.12290/xhyxzz.2021-0588

头颈部副神经节瘤的遗传学研究进展

doi: 10.12290/xhyxzz.2021-0588
基金项目: 

首都卫生发展科研专项 2016-2-2046

详细信息
    通讯作者:

    夏寅  电话:010-59976698,E-mail: xiayin3@163.com

  • 中图分类号: R762;R-1

Genetics of Head and Neck Paragangliomas

Funds: 

Capital's Funds for Health Improvement and Research 2016-2-2046

More Information
    Corresponding author: XIA Yin  Tel:010-59976698,E-mail: xiayin3@163.com
  • 摘要: 头颈部副神经节瘤(head and neck paraganglioma,HNPGL)是一种少见的神经源性肿瘤,遗传因素在其发病过程中起一定作用。到目前为止,发现与HNPGL发病相关的基因共10个,包括SDHA、SDHB、SDHC、SDHD、SDHAF2、VHL、HIF2A、RET、NF1和TMEM127,其中SDHB、SDHC、SDHD、SDHAF2和VHL是常见致病基因。不同基因突变的临床表型不尽相同,SDHD、SDHC和SDHAF2突变几乎100%表现为HNPGL,SDHD和SDHAF2突变倾向于形成多发性副神经节瘤,且遗传方式具有明显母亲印记; 而SDHB突变有交感性副神经节瘤及恶变倾向。明确副神经节瘤的分子机制及基因型-表型之间的关系,可为HNPGL患者的遗传咨询、诊治和随访策略制订等提供帮助。
    作者贡献:王璞负责论文构思及撰写; 夏寅指导论文修订。
    利益冲突:
  • 表  1  与HNPGL发病相关的5种常见基因及其特点

    基因名称 SDHD SDHB SDHC SDHAF2 VHL
    突变位点 11q23.18 1p36.13 1q21 11q13.1 3p25.3
    遗传方式 常染色体显性遗传 常染色体显性遗传 常染色体显性遗传 常染色体显性遗传 常染色体显性遗传/体细胞突变
    母亲印记 - - -
    平均发病年龄(岁) 36 39 38~46 33 26
    HNPGL 高(91%~98%) 中(27%~31%) 高(近100%) 高(100%) 低(0.5%)
    多发性副神经节瘤 高(60%~79%) 低(8%) 低(19%~31%) 高(91%) -
    内分泌活性 低(20%) 高(52%~84%) 很低 -
    恶性率 低(8%) 高(20.6%~41%) 很低 -
    HNPGL:头颈部副神经节瘤; -:目前无相关信息
    下载: 导出CSV
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出版历程
  • 收稿日期:  2021-08-11
  • 录用日期:  2021-09-30
  • 网络出版日期:  2021-10-26
  • 刊出日期:  2021-11-30

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