Genetics of Head and Neck Paragangliomas
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,...
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| Format: | Article |
| Language: | zho |
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Editorial Office of Medical Journal of Peking Union Medical College Hospital
2021-11-01
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| Series: | Xiehe Yixue Zazhi |
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| Online Access: | https://xhyxzz.pumch.cn/en/article/doi/10.12290/xhyxzz.2021-0588 |
| _version_ | 1818337721438961664 |
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| author | WANG Pu XIA Yin |
| author_facet | WANG Pu XIA Yin |
| author_sort | WANG Pu |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-13T14:59:43Z |
| format | Article |
| id | doaj.art-5c86300a52dc4ab594b55aa8c27b90da |
| institution | Directory Open Access Journal |
| issn | 1674-9081 |
| language | zho |
| last_indexed | 2024-12-13T14:59:43Z |
| publishDate | 2021-11-01 |
| publisher | Editorial Office of Medical Journal of Peking Union Medical College Hospital |
| record_format | Article |
| series | Xiehe Yixue Zazhi |
| spelling | doaj.art-5c86300a52dc4ab594b55aa8c27b90da2022-12-21T23:41:09ZzhoEditorial Office of Medical Journal of Peking Union Medical College HospitalXiehe Yixue Zazhi1674-90812021-11-0112697798210.12290/xhyxzz.2021-0588Genetics of Head and Neck ParagangliomasWANG PuXIA YinHead 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.https://xhyxzz.pumch.cn/en/article/doi/10.12290/xhyxzz.2021-0588head and neck paragangliomagene mutationmolecular mechanismgenotype-phenotype |
| spellingShingle | WANG Pu XIA Yin Genetics of Head and Neck Paragangliomas Xiehe Yixue Zazhi head and neck paraganglioma gene mutation molecular mechanism genotype-phenotype |
| title | Genetics of Head and Neck Paragangliomas |
| title_full | Genetics of Head and Neck Paragangliomas |
| title_fullStr | Genetics of Head and Neck Paragangliomas |
| title_full_unstemmed | Genetics of Head and Neck Paragangliomas |
| title_short | Genetics of Head and Neck Paragangliomas |
| title_sort | genetics of head and neck paragangliomas |
| topic | head and neck paraganglioma gene mutation molecular mechanism genotype-phenotype |
| url | https://xhyxzz.pumch.cn/en/article/doi/10.12290/xhyxzz.2021-0588 |
| work_keys_str_mv | AT wangpu geneticsofheadandneckparagangliomas AT xiayin geneticsofheadandneckparagangliomas |