Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?

Pheochromocytoma and paraganglioma are rare neuroendocrine tumors that arise in the adrenal medulla and the extra-adrenal paraganglia, respectively. Inheritance of these tumors is mainly a result of mutations affecting the VHL, RET, NF1, and SDH genes. Germ-line mutations of the SDH genes have been...

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Detalles Bibliográficos
Autores: Cascon Soriano, Alberto, Montero-Conde, Cristina, Ruiz-Llorente, Sergio, Mercadillo, Fátima, Letón, Rocío, Rodríguez-Antona, Cristina, Martínez-Delgado, Beatriz, Delgado, Manuel, Díez, Alberto, Rovira, Adela, Díaz, José Angel, Robledo Batanero, Mercedes
Tipo de recurso: artículo
Fecha de publicación:2006
País:España
Institución:Instituto de Salud Carlos III (ISCIII)
Repositorio:Repisalud
Idioma:inglés
OAI Identifier:oai:repisalud.isciii.es:20.500.12105/26063
Acceso en línea:https://hdl.handle.net/20.500.12105/26063
Access Level:acceso abierto
Palabra clave:GENE-MUTATIONS
HEREDITARY PARAGANGLIOMA
PHEOCHROMOCYTOMA
EXPRESSION
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spelling Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?Cascon Soriano, AlbertoMontero-Conde, CristinaRuiz-Llorente, SergioMercadillo, FátimaLetón, RocíoRodríguez-Antona, CristinaMartínez-Delgado, BeatrizDelgado, ManuelDíez, AlbertoRovira, AdelaDíaz, José AngelRobledo Batanero, MercedesGENE-MUTATIONSHEREDITARY PARAGANGLIOMAPHEOCHROMOCYTOMAEXPRESSIONPheochromocytoma and paraganglioma are rare neuroendocrine tumors that arise in the adrenal medulla and the extra-adrenal paraganglia, respectively. Inheritance of these tumors is mainly a result of mutations affecting the VHL, RET, NF1, and SDH genes. Germ-line mutations of the SDH genes have been found to account for nearly 10% of apparently sporadic cases. Nevertheless, alterations other than point mutations have not yet been well characterized. In this study, we investigated the frequency of gross SDH deletions in 24 patients who tested negative for point mutations and had at least one of the recommended features for genetic testing. For this purpose, we used a technique that is easy to implement in the lab to specifically detect gross deletions affecting SDHB, SDHC, and SDHD. We identified 3 heterozygous SDHB deletions (3/24) in 3 independent cases with paraganglioma: 1 whole SDHB deletion and 2 deletions exclusively affecting exon 1. These latter mutations match the unique gross deletion previously reported, indicating this region could be a hot spot for gross SDHB deletions. It seems likely that these alterations can account for a considerable number of both familial and apparently sporadic paraganglioma cases. Although this is the first report describing the presence of gross deletions in patients with apparently sporadic paragangliomas, the extra-adrenal location of the tumor seems to constitute a determining factor for whether to include these patients in genetic testing for gross deletions in the SDHB gene.Wiley20252025-01-1720062006-03-0120062006-03-01research articlehttp://purl.org/coar/resource_type/c_2df8fbb1VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/20.500.12105/26063reponame:Repisaludinstname:Instituto de Salud Carlos III (ISCIII)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:repisalud.isciii.es:20.500.12105/260632026-06-12T12:43:37Z
dc.title.none.fl_str_mv Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?
title Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?
spellingShingle Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?
Cascon Soriano, Alberto
GENE-MUTATIONS
HEREDITARY PARAGANGLIOMA
PHEOCHROMOCYTOMA
EXPRESSION
title_short Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?
title_full Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?
title_fullStr Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?
title_full_unstemmed Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?
title_sort Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?
dc.creator.none.fl_str_mv Cascon Soriano, Alberto
Montero-Conde, Cristina
Ruiz-Llorente, Sergio
Mercadillo, Fátima
Letón, Rocío
Rodríguez-Antona, Cristina
Martínez-Delgado, Beatriz
Delgado, Manuel
Díez, Alberto
Rovira, Adela
Díaz, José Angel
Robledo Batanero, Mercedes
author Cascon Soriano, Alberto
author_facet Cascon Soriano, Alberto
Montero-Conde, Cristina
Ruiz-Llorente, Sergio
Mercadillo, Fátima
Letón, Rocío
Rodríguez-Antona, Cristina
Martínez-Delgado, Beatriz
Delgado, Manuel
Díez, Alberto
Rovira, Adela
Díaz, José Angel
Robledo Batanero, Mercedes
author_role author
author2 Montero-Conde, Cristina
Ruiz-Llorente, Sergio
Mercadillo, Fátima
Letón, Rocío
Rodríguez-Antona, Cristina
Martínez-Delgado, Beatriz
Delgado, Manuel
Díez, Alberto
Rovira, Adela
Díaz, José Angel
Robledo Batanero, Mercedes
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv
dc.subject.none.fl_str_mv GENE-MUTATIONS
HEREDITARY PARAGANGLIOMA
PHEOCHROMOCYTOMA
EXPRESSION
topic GENE-MUTATIONS
HEREDITARY PARAGANGLIOMA
PHEOCHROMOCYTOMA
EXPRESSION
description Pheochromocytoma and paraganglioma are rare neuroendocrine tumors that arise in the adrenal medulla and the extra-adrenal paraganglia, respectively. Inheritance of these tumors is mainly a result of mutations affecting the VHL, RET, NF1, and SDH genes. Germ-line mutations of the SDH genes have been found to account for nearly 10% of apparently sporadic cases. Nevertheless, alterations other than point mutations have not yet been well characterized. In this study, we investigated the frequency of gross SDH deletions in 24 patients who tested negative for point mutations and had at least one of the recommended features for genetic testing. For this purpose, we used a technique that is easy to implement in the lab to specifically detect gross deletions affecting SDHB, SDHC, and SDHD. We identified 3 heterozygous SDHB deletions (3/24) in 3 independent cases with paraganglioma: 1 whole SDHB deletion and 2 deletions exclusively affecting exon 1. These latter mutations match the unique gross deletion previously reported, indicating this region could be a hot spot for gross SDHB deletions. It seems likely that these alterations can account for a considerable number of both familial and apparently sporadic paraganglioma cases. Although this is the first report describing the presence of gross deletions in patients with apparently sporadic paragangliomas, the extra-adrenal location of the tumor seems to constitute a determining factor for whether to include these patients in genetic testing for gross deletions in the SDHB gene.
publishDate 2006
dc.date.none.fl_str_mv 2006
2006-03-01
2006
2006-03-01
2025
2025-01-17
dc.type.none.fl_str_mv research article
http://purl.org/coar/resource_type/c_2df8fbb1
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/20.500.12105/26063
url https://hdl.handle.net/20.500.12105/26063
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv reponame:Repisalud
instname:Instituto de Salud Carlos III (ISCIII)
instname_str Instituto de Salud Carlos III (ISCIII)
reponame_str Repisalud
collection Repisalud
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812429

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