Novel germline SDHD mutation in a patient with recurrent familial carotid body tumor and concomitant pheochromocytoma

作者：Kim Eun Sook; Kim Su Yeon; Mo Eun Young; Jang Dong Kyu; Moon Sung Dae^*; Han Je Ho

来源：Head and Neck-Journal for the Sciences and Specialties of the Head and Neck, 2014, 36(12): E131-E135.

DOI：10.1002/hed.23670

• succinate dehydrogenase
• paraganglioma
• pheochromocytoma
• carotid body tumor
• gene mutation

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. %26lt;br%26gt;MethodsDNA was isolated from whole blood and polymerase chain reaction (PCR) products were sequenced with an ABI3730 x 1 Genetic Analyzer. %26lt;br%26gt;ResultsA 30-year-old Korean woman underwent resection of a carotid PGL. Fourteen years later, she was readmitted for a cervical mass. F-18-fluorodeoxyglucose (FDG)-positron emission tomography (PET)/CT revealed a hot spot in the adrenal gland, besides the carotid mass. Surgical pathology confirmed recurrence of the carotid PGL and a concomitant pheochromocytoma. Genetic analysis revealed SDHD c.119del T (p.I40TfsX46) mutation. One daughter has been identified as a carrier. %26lt;br%26gt;ConclusionWe found a novel SDHD mutation from a Korean family that shows similar clinical features to those in other SDHD mutations, mostly from Western countries. Further studies are needed to determine whether similar genotype-phenotype correlations exist in the Asian patients with familial PGLs.

• 出版日期2014-12