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

ABSTRACT Background Recent 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. Methods DNA was isolated from whole blood and polymerase chain reaction (PCR) products were sequenced with an ABI3730 × 1 Genetic Analyzer. Results A 30‐year‐old Korean woman underwent resection of a carotid PGL. Fourteen years later, she was readmitted for a cervical mass. 18F‐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. Conclusion We 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. © 2014 Wiley Periodicals, Inc. Head Neck 36: E131–E135, 2014