A novel SDHB mutation associated with hereditary head and neck paraganglioma

Laryngoscope. 2011 Dec;121(12):2572-5. doi: 10.1002/lary.22352.

Abstract

Objectives/hypothesis: To describe a novel germline mutation in the succinate dehydrogenase subunit B (SDHB) gene.

Study design: Retrospective review.

Methods: The medical records of a patient with bilateral carotid body paragangliomas were reviewed.

Results: A 35-year-old woman with a family history of neck masses presented with bilateral carotid body paragangliomas. DNA sequencing revealed a previously unreported conservative substitution (Leu111Val) mutation in the SDHB gene.

Conclusions: The Leu111Val germline mutation of SDHB is likely associated with a phenotype of head and neck paragangliomas, and carriers would benefit from periodic screening for sympathetic paragangliomas.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Biopsy, Needle
  • Carotid Body Tumor / genetics*
  • Carotid Body Tumor / pathology
  • Carotid Body Tumor / surgery*
  • Female
  • Follow-Up Studies
  • Genetic Predisposition to Disease*
  • Germ-Line Mutation
  • Head and Neck Neoplasms / genetics*
  • Head and Neck Neoplasms / pathology
  • Head and Neck Neoplasms / surgery*
  • Humans
  • Immunohistochemistry
  • Neoplasm Staging
  • Risk Assessment
  • Succinate Dehydrogenase / genetics*
  • Tomography, X-Ray Computed / methods
  • Treatment Outcome

Substances

  • Succinate Dehydrogenase