R27X nonsense mutation of the SDHB gene in a patient with sporadic malignant paraganglioma.
Endocrine
; 36(1): 10-5, 2009 Aug.
Article
em En
| MEDLINE
| ID: mdl-19415531
ABSTRACT
It has been estimated that approximately 10% of pheochromocytomas and paragangliomas are part of a hereditary syndrome. Recent studies, however, suggest that the genetic involvement in pheochromocytoma/paraganglioma is actually far more common. Here, we report a case of malignant paraganglioma with no apparent family history. A 59-year-old man was referred to our services because of multiple abdominal masses. Plasma and urine adrenalin and noradrenalin levels were slightly elevated, and plasma dopamine and urine vanillylmandelic acid levels were remarkably elevated. Abdominal and chest computed tomography revealed multiple masses in the para-aortic region and in both lungs. Although (131)I-meta iodobenzylguanidine scintigraphy did not show significant uptake in these tumors, a 6-[(18)F]fluorodeoxyglucose positron emission tomographic scanning study showed multiple areas of uptake corresponding to the tumors. Biopsy of the tumors revealed paraganglioma with chromogranin A-immunopositive cells. Genetic analysis indicated a nonsense mutation at codon 27 of the SDHB gene. As recently described, SDHB mutations may cause extra-adrenal and malignant paragangliomas, such as in the present case.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Paraganglioma
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Neoplasias do Sistema Nervoso Periférico
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Succinato Desidrogenase
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Códon sem Sentido
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Neoplasias Primárias Múltiplas
Limite:
Humans
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Male
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Middle aged
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article