Characterization of Endolymphatic Sac Tumors and von Hippel-Lindau Disease in the International ELST Registry

Autores
Sanso, Elsa Gabriela; Barontini, Marta Beatriz; Members of the International ELST Consortium
Año de publicación
2015
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background Endolymphatic sac tumors (ELSTs) are, with a prevalence of up to 16%, a component of von Hippel–Lindau (VHL) disease. Data from international registries regarding heritable fraction and characteristics, germline VHL mutation frequency, and prevalence are lacking. Methods Systematic registration of ELSTs from international centers of otorhinolaryngology and from multidisciplinary VHL centers’ registries was performed. Molecular genetic analyses of the VHL gene were offered to all patients. Results Our population-based registry comprised 93 patients with ELST and 1789 patients with VHL. The prevalence of VHL germline mutations in apparently sporadic ELSTs was 39%. The prevalence of ELSTs in patients with VHL was 3.6%. ELST was the initial manifestation in 32% of patients with VHL-ELST. Conclusion Prevalence of ELST in VHL disease is much lower compared to the literature. VHL-associated ELSTs can be the first presentation of the syndrome and mimic sporadic tumors, thus emphasizing the need of molecular testing in all presentations of ELST.
Fil: Sanso, Elsa Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina
Fil: Barontini, Marta Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina
Fil: Members of the International ELST Consortium.
Materia
Endolymphatic
Vhl
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/8125
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/8125
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Characterization of Endolymphatic Sac Tumors and von Hippel-Lindau Disease in the International ELST RegistrySanso, Elsa GabrielaBarontini, Marta BeatrizMembers of the International ELST ConsortiumEndolymphaticVhlhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Background Endolymphatic sac tumors (ELSTs) are, with a prevalence of up to 16%, a component of von Hippel–Lindau (VHL) disease. Data from international registries regarding heritable fraction and characteristics, germline VHL mutation frequency, and prevalence are lacking. Methods Systematic registration of ELSTs from international centers of otorhinolaryngology and from multidisciplinary VHL centers’ registries was performed. Molecular genetic analyses of the VHL gene were offered to all patients. Results Our population-based registry comprised 93 patients with ELST and 1789 patients with VHL. The prevalence of VHL germline mutations in apparently sporadic ELSTs was 39%. The prevalence of ELSTs in patients with VHL was 3.6%. ELST was the initial manifestation in 32% of patients with VHL-ELST. Conclusion Prevalence of ELST in VHL disease is much lower compared to the literature. VHL-associated ELSTs can be the first presentation of the syndrome and mimic sporadic tumors, thus emphasizing the need of molecular testing in all presentations of ELST.Fil: Sanso, Elsa Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; ArgentinaFil: Barontini, Marta Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; ArgentinaFil: Members of the International ELST Consortium.Wiley2015-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/vnd.openxmlformats-officedocument.wordprocessingml.documentapplication/pdfhttp://hdl.handle.net/11336/8125Sanso, Elsa Gabriela; Barontini, Marta Beatriz; Members of the International ELST Consortium; Characterization of Endolymphatic Sac Tumors and von Hippel-Lindau Disease in the International ELST Registry; Wiley; Head And Neck-journal For The Sciences And Specialties Of The Head And Neck; 38; s1; 1-2015; E673–E6791043-3074enginfo:eu-repo/semantics/altIdentifier/url/http://onlinelibrary.wiley.com/doi/10.1002/hed.24067/abstractinfo:eu-repo/semantics/altIdentifier/doi/10.1002/hed.24067info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:36:21Zoai:ri.conicet.gov.ar:11336/8125instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:36:22.194CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Characterization of Endolymphatic Sac Tumors and von Hippel-Lindau Disease in the International ELST Registry
title Characterization of Endolymphatic Sac Tumors and von Hippel-Lindau Disease in the International ELST Registry
spellingShingle Characterization of Endolymphatic Sac Tumors and von Hippel-Lindau Disease in the International ELST Registry
Sanso, Elsa Gabriela
Endolymphatic
Vhl
title_short Characterization of Endolymphatic Sac Tumors and von Hippel-Lindau Disease in the International ELST Registry
title_full Characterization of Endolymphatic Sac Tumors and von Hippel-Lindau Disease in the International ELST Registry
title_fullStr Characterization of Endolymphatic Sac Tumors and von Hippel-Lindau Disease in the International ELST Registry
title_full_unstemmed Characterization of Endolymphatic Sac Tumors and von Hippel-Lindau Disease in the International ELST Registry
title_sort Characterization of Endolymphatic Sac Tumors and von Hippel-Lindau Disease in the International ELST Registry
dc.creator.none.fl_str_mv Sanso, Elsa Gabriela
Barontini, Marta Beatriz
Members of the International ELST Consortium
author Sanso, Elsa Gabriela
author_facet Sanso, Elsa Gabriela
Barontini, Marta Beatriz
Members of the International ELST Consortium
author_role author
author2 Barontini, Marta Beatriz
Members of the International ELST Consortium
author2_role author
author
dc.subject.none.fl_str_mv Endolymphatic
Vhl
topic Endolymphatic
Vhl
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Background Endolymphatic sac tumors (ELSTs) are, with a prevalence of up to 16%, a component of von Hippel–Lindau (VHL) disease. Data from international registries regarding heritable fraction and characteristics, germline VHL mutation frequency, and prevalence are lacking. Methods Systematic registration of ELSTs from international centers of otorhinolaryngology and from multidisciplinary VHL centers’ registries was performed. Molecular genetic analyses of the VHL gene were offered to all patients. Results Our population-based registry comprised 93 patients with ELST and 1789 patients with VHL. The prevalence of VHL germline mutations in apparently sporadic ELSTs was 39%. The prevalence of ELSTs in patients with VHL was 3.6%. ELST was the initial manifestation in 32% of patients with VHL-ELST. Conclusion Prevalence of ELST in VHL disease is much lower compared to the literature. VHL-associated ELSTs can be the first presentation of the syndrome and mimic sporadic tumors, thus emphasizing the need of molecular testing in all presentations of ELST.
Fil: Sanso, Elsa Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina
Fil: Barontini, Marta Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina
Fil: Members of the International ELST Consortium.
description Background Endolymphatic sac tumors (ELSTs) are, with a prevalence of up to 16%, a component of von Hippel–Lindau (VHL) disease. Data from international registries regarding heritable fraction and characteristics, germline VHL mutation frequency, and prevalence are lacking. Methods Systematic registration of ELSTs from international centers of otorhinolaryngology and from multidisciplinary VHL centers’ registries was performed. Molecular genetic analyses of the VHL gene were offered to all patients. Results Our population-based registry comprised 93 patients with ELST and 1789 patients with VHL. The prevalence of VHL germline mutations in apparently sporadic ELSTs was 39%. The prevalence of ELSTs in patients with VHL was 3.6%. ELST was the initial manifestation in 32% of patients with VHL-ELST. Conclusion Prevalence of ELST in VHL disease is much lower compared to the literature. VHL-associated ELSTs can be the first presentation of the syndrome and mimic sporadic tumors, thus emphasizing the need of molecular testing in all presentations of ELST.
publishDate 2015
dc.date.none.fl_str_mv 2015-01
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/8125
Sanso, Elsa Gabriela; Barontini, Marta Beatriz; Members of the International ELST Consortium; Characterization of Endolymphatic Sac Tumors and von Hippel-Lindau Disease in the International ELST Registry; Wiley; Head And Neck-journal For The Sciences And Specialties Of The Head And Neck; 38; s1; 1-2015; E673–E679
1043-3074
url http://hdl.handle.net/11336/8125
identifier_str_mv Sanso, Elsa Gabriela; Barontini, Marta Beatriz; Members of the International ELST Consortium; Characterization of Endolymphatic Sac Tumors and von Hippel-Lindau Disease in the International ELST Registry; Wiley; Head And Neck-journal For The Sciences And Specialties Of The Head And Neck; 38; s1; 1-2015; E673–E679
1043-3074
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://onlinelibrary.wiley.com/doi/10.1002/hed.24067/abstract
info:eu-repo/semantics/altIdentifier/doi/10.1002/hed.24067
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/vnd.openxmlformats-officedocument.wordprocessingml.document
application/pdf
dc.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.260194

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