title: The malignant potential of a succinate dehydrogenase subunit B germline mutation.
abstract: Familial catecholamine secreting tumors have been associated with multiple endocrine neoplasia type 2, Von Hippel-Lindau disease and neurofibromatosis type 1. In the last years, mutations of genes encoding subunits B, C and D of the succinate dehydrogenase have been discovered as other causes of pheochromocytomas and paragangliomas. We diagnosed a malignant retroperitoneal paraganglioma in a 64-yr-old man with bone metastasis in 2001. Two years later a retroperitoneal benign paraganglioma was found and resected in his 32-yr-old daughter. Thus we diagnosed in this family a paraganglioma syndrome. We performed molecular genetic analyses of the genes SDHB, SDHC, and SDHD. We detected in the SDHB gene the mutation SDHB c. 558-3 C> G affecting the splice site of exon 5. In a second daughter the mutation was also detected, thorough clinical investigation revealed normal results. We conclude that the SDHB mutation predisposes to abdominal extra-adrenal and potential malignant pheochromocytoma with incomplete penetrance.
authors.affiliation: Department of Endocrinology, Hospital de Navarra, Pamplona, Spain. cfendoc@yahoo.com
authors.forename: C
authors.initials: C
authors.lastname: Fuentes
authors.forename: E
authors.initials: E
authors.lastname: Menéndez
authors.forename: J
authors.initials: J
authors.lastname: Pineda
authors.forename: J P
authors.initials: JP
authors.lastname: Martínez De Esteban
authors.forename: E
authors.initials: E
authors.lastname: Anda
authors.forename: M J
authors.initials: MJ
authors.lastname: Goñi
authors.forename: B
authors.initials: B
authors.lastname: Bausch
authors.forename: H P H
authors.initials: HP
authors.lastname: Neumann
mesh_terms: D000328:Adult; D005192:Family Health; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D007506:Iron-Sulfur Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010235:Paraganglioma / Q000235:genetics*; D021122:Protein Subunits / Q000235:genetics*; D012186:Retroperitoneal Neoplasms / Q000235:genetics*; D013385:Succinate Dehydrogenase / Q000235:genetics*
chemical_list: D007506:Iron-Sulfur Proteins; D021122:Protein Subunits; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase