Synchronous carotid body and thoracic paraganglioma associated with a germline SDHC mutation.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 21106325.
- Also identified by DOI 10.1016/j.jvs.2010.09.064.
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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.
Medical subject headings
- Carotid Body Tumor
- Germ-Line Mutation
- Membrane Proteins
- Neoplasms, Multiple Primary
- Paraganglioma, Extra-Adrenal
- Thoracic Neoplasms