Genetic testing in pheochromocytoma- and paraganglioma-associated syndromes.
Ann N Y Acad Sci
; 1073: 104-11, 2006 Aug.
Article
en 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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Base de datos:
MEDLINE
Asunto principal:
Paraganglioma
/
Feocromocitoma
/
Pruebas Genéticas
/
Neoplasias de las Glándulas Suprarrenales
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Idioma:
En
Revista:
Ann N Y Acad Sci
Año:
2006
Tipo del documento:
Article