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- Title
Novel germline SDHD mutation in a patient with recurrent familial carotid body tumor and concomitant pheochromocytoma.
- Authors
Kim, Eun Sook; Kim, Su Yeon; Mo, Eun Young; Jang, Dong Kyu; Moon, Sung Dae; Han, Je Ho; Andersen, Peter
- Abstract
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
- Subjects
KOREA; CAROTID body tumors; PHEOCHROMOCYTOMA; NEUROENDOCRINE tumors; NONCHROMAFFIN paraganglia
- Publication
Head & Neck, 2014, Vol 36, Issue 12, pE131
- ISSN
1043-3074
- Publication type
Article
- DOI
10.1002/hed.23670