Carotid and vagal paragangliomas (CPGLs and VPGLs) are rare neoplasms that arise from the paraganglia located at the bifurcation of carotid arteries and vagal trunk, respectively. Both tumors can occur jointly as multiple paragangliomas accounting for approximately 10 to 20% of all head and neck paragangliomas. However, molecular and genetic mechanisms underlying the pathogenesis of multiple paragangliomas remain elusive. We report a case of multiple paragangliomas in a patient, manifesting as bilateral CPGL and unilateral VPGL. Tumors were revealed via computed tomography and ultrasound study and were resected in two subsequent surgeries. Both CPGLs and VPGL were subjected to immunostaining for succinate dehydrogenase (SDH) subunits and exome analysis. A likely pathogenic germline variant in the SDHD gene was indicated, while likely pathogenic somatic variants differed among the tumors. The identified germline variant in the SDHD gene seems to be a driver in the development of multiple paragangliomas. However, different spectra of somatic variants identified in each tumor indicate individual molecular mechanisms underlying their pathogenesis.

中文翻译：

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多发性副神经节瘤：病例报告。

颈动脉和迷走神经副神经节瘤（CPGLs 和 VPGLs）是罕见的肿瘤，分别起源于位于颈动脉和迷走神经干分叉处的副神经节。两种肿瘤都可以作为多发性副神经节瘤共同发生，约占所有头颈部副神经节瘤的 10% 至 20%。然而，多发性副神经节瘤发病机制的分子和遗传机制仍然难以捉摸。我们报告了一例患者多发副神经节瘤，表现为双侧 CPGL 和单侧 VPGL。通过计算机断层扫描和超声研究发现肿瘤，并在随后的两次手术中切除了肿瘤。CPGLs 和 VPGL 都进行了琥珀酸脱氢酶 (SDH) 亚基和外显子组分析的免疫染色。表明 SDHD 基因中可能存在致病性种系变异，而可能的致病体细胞变异在肿瘤之间存在差异。SDHD 基因中鉴定出的种系变异似乎是多发性副神经节瘤发展的驱动因素。然而，在每个肿瘤中鉴定的体细胞变异的不同谱表明其发病机制背后的个体分子机制。