Succinate dehydrogenase subunit B mutation presenting with spermatic cord and neck paraganglioma

Bachmeier, Caroline, Kuma, Leslie, Collins, Michael, and Sangla, Kunwarjit (2018) Succinate dehydrogenase subunit B mutation presenting with spermatic cord and neck paraganglioma. AACE Clinical Case Reports, 4 (4). e324-e328.

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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.

Item ID: 69781
Item Type: Article (Case Study)
ISSN: 2376-0605
Copyright Information: Copyright © 2018 AACE. This is an Open Access article under the CC-BY-NC-ND license.
Date Deposited: 23 May 2022 23:25
FoR Codes: 32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320208 Endocrinology @ 100%
SEO Codes: 20 HEALTH > 2001 Clinical health > 200101 Diagnosis of human diseases and conditions @ 100%
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