Posterior Mediastinal Paraganglioma With SDHB Gene Mutation: Case Report

Paragangliomas, a term used for tumors of extra-adrenal origin, are chromaffin cell tumors that secrete catecholamines. Approximately one in three patients with paraganglioma has a gene mutation associated with familial paraganglioma syndromes (FPGLs), resulting from mutations in one of the subunits of the succinate dehydrogenase (SDH) gene. Most extraadrenal paragangliomas involve the head and neck, and only 2% of paragangliomas are found in the mediastinum. We report the case of a 37-year-old woman with a posterior mediastinal paraganglioma attached to the heart and recurrent glomus jugulare who underwent glomus tumor resection at the age of 17 years. Genetic testing revealed a mutation in the SDH subunit B gene associated with FPGL type 4 (FPGL4). This case report describes the features of multimodal imaging of a posterior mediastinal paraganglioma and explain how a multidisciplinary approach led to the diagnosis of FPGL4.