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BackgroundThe purpose of this study was to give an overview on hereditary syndromes associated with head and neck paragangliomas (HNPGs).
MethodsOur methods were the review and discussion of the pertinent literature.
ResultsAbout one third of all patients with HNPGs are carriers of germline mutations. Hereditary HNPGs have been described in association with mutations of 10 different genes. Mutations...
BackgroundHereditary paraganglioma‐pheochromocytoma syndromes (PGL/PCC) are rare tumors arising from neuroendocrine cells.
Methods and ResultsThe proband, a 59‐year‐old white man and his 42‐year‐old elder son had a medical history of bilateral carotid body PGL and both presented for treatment of abdominal PGLs. His 36‐year‐old daughter had excision of recurrent malignant carotid body PGL and vertebral...
BackgroundRecent advances in genetics revealed that 25% to 30% of head and neck paragangliomas (PGLs) are inherited tumors associated with germline mutation, mainly in the succinate dehydrogenase (SDH) gene.
MethodsDNA was isolated from whole blood and polymerase chain reaction (PCR) products were sequenced with an ABI3730 × 1 Genetic Analyzer.
ResultsA 30‐year‐old Korean woman underwent resection...
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