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Volume 12 Issue 6
Nov.  2021
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Article Navigation >  Medical Journal of Peking Union Medical College Hospital  > 2021  >  12(6): 977-982
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
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Genetics of Head and Neck Paragangliomas

doi: 10.12290/xhyxzz.2021-0588

  • Department of Otorhinolaryngology, Head and Neck Surgery, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China

Funds:

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

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  • Corresponding author: XIA Yin  Tel：010-59976698，E-mail: xiayin3@163.com
  • Received Date: 2021-08-11
  • Accepted Date: 2021-09-30
    • Available Online: 2021-10-26
  • Publish Date: 2021-11-30
    Abstract
  • Head and neck paragangliomas(HNPGL) are rare neurogenic tumors, in which genetic factors play a certain role. So far, 10 genes related to HNPGL(SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, HIF2A, RET, NF1 and TMEM127) have been found. The clinical phenotypes of different gene mutations are different. SDHD, SDHC and SDHAF2 gene mutations are almost 100% related to HNPGL. SDHD and SDHAF2 gene mutations tend to form multiple paragangliomas, and its genetic pattern has obviously maternal imprinting. SDHB mutations have sympathetic paraganglioma and malignant tendency. Understanding the molecular mechanism and genotype-phenotypic relationship of paraganglioma can provide significant help for genetic counseling, diagnosis and treatment, and development of follow-up strategies in patients with HNPGL.
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