Genetics of pheochromocytoma and paraganglioma in Spanish patients.

The presence of familial history in pheochromocytoma/paraganglioma patients, including syndromic antecedents, leads in the majority of cases to a positive genetic testing for mutations in one of the major susceptibility genes described so far. Furthermore, it has been reported that in the absence of...

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Detalles Bibliográficos
Autores: Cascon Soriano, Alberto, Pita, Guillermo, Burnichon, Nelly, Landa, Iñigo, López-Jiménez, Elena, Montero-Conde, Cristina, Leskelä, Susanna, Leandro-García, Luis Javier, Letón, Rocío, Rodríguez-Antona, Cristina, Díaz, José Angel, López-Vidriero, Emilio, González-Neira, Anna, Velasco, Ana, Matias-Guiu, Xavier, Gimenez-Roqueplo, Anne-Paule, Robledo Batanero, Mercedes
Tipo de recurso: artículo
Fecha de publicación:2009
País:España
Institución:Instituto de Salud Carlos III (ISCIII)
Repositorio:Repisalud
Idioma:inglés
OAI Identifier:oai:repisalud.isciii.es:20.500.12105/26073
Acceso en línea:https://hdl.handle.net/20.500.12105/26073
Access Level:acceso abierto
Palabra clave:MATERNAL TRANSMISSION
CLINICAL PRESENTATION
NECK PARAGANGLIOMA
SDHD MUTATION
PREVALENCE
HEAD
Descripción
Sumario:The presence of familial history in pheochromocytoma/paraganglioma patients, including syndromic antecedents, leads in the majority of cases to a positive genetic testing for mutations in one of the major susceptibility genes described so far. Furthermore, it has been reported that in the absence of familial antecedents, about 11-24% of patients also carry a mutation in one of these related genes. In these cases, other clinical aspects like bilaterality, multiplicity, location of the tumors, or age at onset can help to recognize the underlying genes involved.

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