Role of the genetic study in the management of carotid body tumor in paraganglioma syndrome

Eur J Vasc Endovasc Surg. 2008 Nov;36(5):517-9. doi: 10.1016/j.ejvs.2008.06.021. Epub 2008 Aug 8.

Abstract

Diagnosis of carotid body tumor (CBT) was made in a 36 years old woman. The pre-operative examination included genetic analysis of the succinate dehydrogenase that showed a mutation in his subunit D responsible of multiple paraganglioma at slow growth. Subsequently a thoraco-abdominal CT and indium(111) octreotide body scan were performed and another paraganglioma was detected in the anterior mediastinum. CBT was surgically removed; differently the thoracic lesion due to his benign genetic profile was not treated. During a 3-years follow-up the thoracic paraganglioma as expected, didn't increase. Genetic analysis of succinate dehydrogenase, should be performed in the management of CBT.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cardiac Surgical Procedures
  • Carotid Body Tumor / enzymology
  • Carotid Body Tumor / genetics*
  • Carotid Body Tumor / pathology
  • Carotid Body Tumor / surgery
  • DNA Mutational Analysis
  • Female
  • Gene Expression Regulation, Enzymologic*
  • Gene Expression Regulation, Neoplastic*
  • Humans
  • Magnetic Resonance Angiography
  • Mediastinal Neoplasms / genetics*
  • Mediastinal Neoplasms / pathology
  • Mediastinal Neoplasms / therapy
  • Polymorphism, Single Nucleotide*
  • Succinate Dehydrogenase / genetics*
  • Syndrome
  • Tomography, X-Ray Computed
  • Treatment Outcome

Substances

  • SDHD protein, human
  • Succinate Dehydrogenase