Role of the genetic study in the management of carotid body tumor in paraganglioma syndrome.
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.
Antonello
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M
Department of Cardiac, Thoracic and Vascular Sciences, Section of Vascular and Endovascular Surgery, University of Padua, Italy. michele.antonello.1@unipd.it
Piazza
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Menegolo
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Opocher
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Deriu
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Grego
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D000328:Adult; D006348:Cardiac Surgical Procedures; D002345:Carotid Body Tumor / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D004252:DNA Mutational Analysis; D005260:Female; D015971:Gene Expression Regulation, Enzymologic; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D018810:Magnetic Resonance Angiography; D008479:Mediastinal Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D020641:Polymorphism, Single Nucleotide; D013385:Succinate Dehydrogenase / Q000235:genetics*; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
C491545:SDHD protein, human; D013385:Succinate Dehydrogenase