Succinate Dehydrogenase Subunit B Mutation Presenting with Spermatic Cord and Neck Paraganglioma

ABSTRACT Objective Paragangliomas (PGLs) are rare neuroendocrine tumors often associated with hypersecretion of catecholamines, and are found along the sympathetic chains or parasympathetic paraganglia. PGLs can occur in the context of hereditary syndromes and commonly with succinate dehydrogenase (SDH) complex gene mutations. PGLs of the spermatic cord or testes are extremely rare and reports of synchronous spermatic cord and neck PGLs have not been reported before. In previous cases of spermatic cord PGLs, screening for an underlying genetic cause was not performed apart from 1 case where the patient was positive for a SDH subunit D mutation. Methods We present a case report and a review of the literature using the PubMed, Medline, and Google Scholar databases. Results We report the case of a 55-year-old man with a 1-year history of dysphonia resulting in radiological diagnosis of a right vagal PGL treated with radiation. Laboratory investigations excluded a secretory PGL. Simultaneously he was diagnosed with a positron emission tomography-avid testicular mass. An orchidectomy histologically confirmed a spermatic cord PGL. Genetic testing was positive for a heterozygous germline variant c.380T>G, p.(IIe127Ser) within exon 4 of the SDH subunit B gene which has not been reported with spermatic cord PGL before. Conclusion This case reports the synchronous occurrence of spermatic cord and neck PGLs with SDH subunit B mutation. It highlights the necessity for clinicians to screen patients with PGLs for an underlying genetic etiology, even if found in unusual locations, as this has significant implications for future treatment, screening, and family planning.