title: Loss of heterozygosity of succinate dehydrogenase B mutation by direct sequencing in synchronous paragangliomas.
abstract: Extraadrenal pheochromocytomas and paragangliomas are rare entities within the pediatric population. We report the presentation of three synchronous extra-adrenal abdominal paragangliomas in an adolescent boy who carries a germline mutation in the succinate dehydrogenase B (SDHB) gene. Loss of heterozygosity of this allele was demonstrated by direct sequencing of DNA from two of his tumors, confirming loss of tumor suppressor function in the pathogenesis of these paragangliomas.
authors: Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
authors: Pinki
authors: P
authors: Prasad
authors: Jeffrey A
authors: JA
authors: Kant
authors: Marcia
authors: M
authors: Wills
authors: Mandy
authors: M
authors: O'Leary
authors: Harold
authors: H
authors: Lovvorn
authors: Elizabeth
authors: E
authors: Yang
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D006801:Humans; D019656:Loss of Heterozygosity / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009378:Neoplasms, Multiple Primary / Q000000981:diagnostic imaging / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D010236:Paraganglioma, Extra-Adrenal / Q000000981:diagnostic imaging / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D013385:Succinate Dehydrogenase / Q000235:genetics*; D014057:Tomography, X-Ray Computed
chemical_list: D013385:Succinate Dehydrogenase