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Synchronous carotid body and thoracic paraganglioma associated with a germline SDHC mutation
Frank C Vandy1, Geoffroy Sisk, Ramon Berguer
1Section of Vascular Surgery, University of Michigan School of Medicine, CVC 5364, 1500 E. Medical Center Drive, Ann Arbor, MI 48109-5867, USA. frankv@umich.edu
Abstract:
Paraganglionic tumors are rare. A germline mutation responsible for a familial pattern of paragangliomas (PGLs) has been identified on the genes encoding for the subunits of succinate dehydrogenase (SDH). Manifestations of those with a succinate dehydrogenase subunit C (SDHC) germline mutation have been almost exclusively reported as single head and neck paragangliomas (HNPGLs). We present a 32-year-old man with a familial SDHC mutation who manifests synchronous PGLs of the carotid body and the thoracic aortopulmonary window. To our knowledge, this is the first report of such a presentation for this mutation.
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