Genetic testing in pheochromocytoma- and paraganglioma-associated syndromes.
Ann N Y Acad Sci
; 1073: 104-11, 2006 Aug.
Article
em En
| MEDLINE
| ID: mdl-17102077
ABSTRACT
Genetic understanding of pheochromocytoma (PHEO) and paraganglioma (PGL) syndromes has recently expanded with the identification of the involvement of the mitochondrial complex II peptides, namely the succinate dehydrogenase subunit B (SDHB), subunit C (SDHC), and subunit D (SDHD). In patients with PHEO and/or PGL genetic testing for germline mutations in SDHD and SDHB has been recommended, in addition to the PHEO susceptibility genes VHL and RET. After careful clinical assessment of the patient, suspected familial disease may direct the clinician to the appropriate gene for testing. In the absence of obvious features of familial disease, the decision regarding the appropriate gene for testing is more difficult. Such testing can be costly and time consuming, but a rational prioritization of gene testing can streamline the process. Therefore in order to achieve this for apparently sporadic cases we propose a decision matrix based on site of tumor, functionality, and age at presentation.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Paraganglioma
/
Feocromocitoma
/
Testes Genéticos
/
Neoplasias das Glândulas Suprarrenais
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Ann N Y Acad Sci
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Austrália