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

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

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Base Sequence
  • DNA Mutational Analysis
  • Exons / genetics
  • Humans
  • Loss of Heterozygosity / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Neoplasms, Multiple Primary / diagnostic imaging
  • Neoplasms, Multiple Primary / enzymology*
  • Neoplasms, Multiple Primary / genetics*
  • Neoplasms, Multiple Primary / pathology
  • Paraganglioma, Extra-Adrenal / diagnostic imaging
  • Paraganglioma, Extra-Adrenal / enzymology*
  • Paraganglioma, Extra-Adrenal / genetics*
  • Paraganglioma, Extra-Adrenal / pathology
  • Succinate Dehydrogenase / genetics*
  • Tomography, X-Ray Computed

Substances

  • Succinate Dehydrogenase