Loss of heterozygosity of succinate dehydrogenase B mutation by direct sequencing in synchronous paragangliomas.
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.
Prasad
Pinki
P
Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Kant
Jeffrey A
JA
Wills
Marcia
M
O'Leary
Mandy
M
Lovvorn
Harold
H
Yang
Elizabeth
E
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
D013385:Succinate Dehydrogenase