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 extra-adrenal 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 de-scribes the features of multimodal imaging of a posterior mediastinal paraganglioma and explain how a multidisciplinary approach led to the diagnosis of FPGL4.