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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。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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Key words:
- head and neck paraganglioma /
- gene mutation /
- molecular mechanism /
- genotype-phenotype
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：无 -
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 有 - - 有 - 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 无 - 恶性率 低(8%) 高(20.6%~41%) 很低 无 - HNPGL：头颈部副神经节瘤; -：目前无相关信息 
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