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Cancer Genet Cytogenet. 2009 Jul 15;192(2):82-5. doi: 10.1016/j.cancergencyto.2009.04.009.

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

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  • 1Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.

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.

PMID:
19596260
[PubMed - indexed for MEDLINE]
PMCID:
PMC2927361
Free PMC Article
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