Poster Presentation The International Congress of Neuroendocrinology 2014

A novel germline SDHD mutation in a patient with recurrent familial carotid body tumor and concomitant pheochromocytoma (#327)

Eun Sook Kim , Eun Yeong Mo , Sung Dae Moon , Je-Ho Han


Recent advances in genetics revealed that 25–30% of head and neck paragangliomas (PGL) are inherited tumors associated with germline mutation, mainly in the succinate dehydrogenase (SDH) gene.                       


DNA was isolated from whole blood and PCR products were sequenced with an ABI3730x1 Genetic Analyzer.



A 30-year-old Korean woman underwent resection of a carotid PGL. Fourteen-years later, she was readmitted for a cervical mass. 18F-FDG-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.


            We found a novel SDHD mutation from a Korean family 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.