Role of the genetic study in the management of carotid body tumor in paraganglioma syndrome.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 18692411.
- Also identified by DOI 10.1016/j.ejvs.2008.06.021.
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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.
Medical subject headings
- Carotid Body Tumor
- Gene Expression Regulation, Enzymologic
- Gene Expression Regulation, Neoplastic
- Mediastinal Neoplasms
- Polymorphism, Single Nucleotide
- Succinate Dehydrogenase