Loss of heterozygosity of succinate dehydrogenase B mutation by direct sequencing in synchronous paragangliomas.

Prasad P, Kant JA, Wills M, O'Leary M, Lovvorn H, Yang E
Cancer Genet Cytogenet. 2009 192 (2): 82-5

PMID: 19596260 · PMCID: PMC2927361 · DOI:10.1016/j.cancergencyto.2009.04.009

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.

MeSH Terms (13)

Adolescent Base Sequence DNA Mutational Analysis Exons Humans Loss of Heterozygosity Male Molecular Sequence Data Mutation Neoplasms, Multiple Primary Paraganglioma, Extra-Adrenal Succinate Dehydrogenase Tomography, X-Ray Computed

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