Familial paraganglioma due to a novel SDHB mutation: familial phenotypic heterogeneity and a potentially novel manifestation

Abstract

Non-paraganglioma (PGL) tumors are rare manifestations of familial PGL syndromes. Primary hyperparathyroidism has not been described in PGL syndromes. We present a 36-year-old man with a history of right carotid body tumor at 24 years and an abdominal PGL at 31 years of age. At 35 years, he developed hypercalcemia (serum Ca 2.65–2.72 mmol/l), and high parathyroid hormone of 92–131 ng/l (normal range, 15–65) and a Tc99 Sestamibi scan showed a single parathyroid adenoma which was confirmed on histopathological examination of parathyroidectomy. Recently, he was diagnosed with a left glomus jugulare which has not been operated on yet. His family history is strongly positive for PGLs. Genetic testing revealed a novel SDHB mutation (p.K137E) but the phenotype and penetrance were variable in different family members.