Familial paragangliomas: case report and literature review

Abstract

Objective: To report a case of a woman with poorly controlled hypertension who was found to have multiple paragangliomas and mutation in the B subunit of succinate dehydrogenase (mitochondrial complex II).

Methods: The pathogenesis of familial paragangliomas and case management are discussed, and the relevant literature is reviewed.

Results: In a 68-year-old woman with a long-term history of hypertension, bilateral carotid body paragangliomas had been resected at 24 and 57 years of age. Current laboratory studies showed an elevated plasma normetanephrine level. Computed tomography and magnetic resonance imaging revealed 3 paragangliomas--1 in the middle mediastinum and 2 intra-abdominally. Surgical excision involved a 2-stage procedure with the patient under the same general anesthesia: (1) a median sternotomy without cardiopulmonary bypass and (2) a midline celiotomy for removal of the retroperitoneal paragangliomas. All 3 tumors were focally adherent to adjacent structures (the left atrium, the uncinate process of the pancreas, and the left renal vessels). All tumors were completely excised without complication, and frozen section analysis confirmed that they were paragangliomas. Genetic testing disclosed a germline mutation in SDHB.

Conclusion: Familial paraganglioma is a rare autosomal dominant, tumorigenic disorder affecting sympathetic and parasympathetic paraganglia.