Paired Primary and Recurrent Rhabdoid Meningiomas: Cytogenetic Alterations, BAP1 Gene Expression Profile and Patient Outcome

Rhabdoid meningiomas (RM) are a rare meningioma subtype with a heterogeneous clinical course which is more frequently associated with recurrence, even among tumors undergoing-complete surgical removal. Here, we retrospectively analyzed the clinical-histopathological and cytogenetic features of 29 tu...

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Autores: Garrido Ruiz, Patricia Alejandra, Rodriguez, Álvaro Otero, Corchete, Luis A., Zelaya Huerta, Victoria, Pasco Peña, Alejandro, Caballero Martínez, Cristina, González-Carreró Fojón, Joaquín, Catalina Fernández, Inmaculada, López Duque, Juan Carlos, Zaldumbide Dueñas, Laura, Mosteiro González, Lorena, Astudillo, María Aurora, Hernández-Laín, Aurelio, Camacho Urkaray, Emma Natalia, Viguri Diaz, María Amparo, Orfao, Alberto, Tabernero, María D.
Tipo de documento: artigo
Estado:Versão publicada
Data de publicação:2024
País:España
Recursos:Consejo Superior de Investigaciones Científicas (CSIC)
Repositório:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/367205
Acesso em linha:http://hdl.handle.net/10261/367205
https://api.elsevier.com/content/abstract/scopus_id/85194150523
Access Level:Acceso aberto
Palavra-chave:Rhabdoid meningioma
Primary tumor
Recurrence
Genetic instability
BAP1
Prognosis
Follow-up
Chromosomal changes
http://metadata.un.org/sdg/3
Ensure healthy lives and promote well-being for all at all ages
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network_acronym_str ES
network_name_str España
repository_id_str
spelling Paired Primary and Recurrent Rhabdoid Meningiomas: Cytogenetic Alterations, BAP1 Gene Expression Profile and Patient OutcomeGarrido Ruiz, Patricia AlejandraRodriguez, Álvaro OteroCorchete, Luis A.Zelaya Huerta, VictoriaPasco Peña, AlejandroCaballero Martínez, CristinaGonzález-Carreró Fojón, JoaquínCatalina Fernández, InmaculadaLópez Duque, Juan CarlosZaldumbide Dueñas, LauraMosteiro González, LorenaAstudillo, María AuroraHernández-Laín, AurelioCamacho Urkaray, Emma NataliaViguri Diaz, María AmparoOrfao, AlbertoTabernero, María D.Rhabdoid meningiomaPrimary tumorRecurrenceGenetic instabilityBAP1PrognosisFollow-upChromosomal changeshttp://metadata.un.org/sdg/3Ensure healthy lives and promote well-being for all at all agesRhabdoid meningiomas (RM) are a rare meningioma subtype with a heterogeneous clinical course which is more frequently associated with recurrence, even among tumors undergoing-complete surgical removal. Here, we retrospectively analyzed the clinical-histopathological and cytogenetic features of 29 tumors, from patients with recurrent (seven primary and 14 recurrent tumors) vs. non-recurrent RM (n = 8). Recurrent RM showed one (29%), two (29%) or three (42%) recurrences. BAP1 loss of expression was found in one third of all RM at diagnosis and increased to 100% in subsequent tumor recurrences. Despite both recurrent and non-recurrent RM shared chromosome 22 losses, non-recurrent tumors more frequently displayed extensive losses of chromosome 19p (62%) and/or 19q (50%), together with gains of chromosomes 20 and 21 (38%, respectively), whereas recurrent RM (at diagnosis) displayed more complex genotypic profiles with extensive losses of chromosomes 1p, 14q, 18p, 18q (67% each) and 21p (50%), together with focal gains at chromosome 17q22 (67%). Compared to paired primary tumors, recurrent RM samples revealed additional losses at chromosomes 16q and 19p (50% each), together with gains at chromosomes 1q and 17q in most recurrent tumors (67%, each). All deceased recurrent RM patients corresponded to women with chromosome 17q gains, although no statistical significant differences were found vs. the other RM patients.The research work performed was funded by the following grants: GRS 2132/A/20 and GRS 2315/A/21 (Consejería de Sanidad JCYL, Gerencia Regional de Salud, Spain); CIBERONC (grant CB16/12/00400 CIBERONC, Instituto de Salud Carlos III, Ministerio de Economía y Competitividad, Madrid, Spain) and FICUS-CIC donations Asociación René Rodríguez Tobar (Santa Cruz de La Palma, Canarias, Spain).Peer reviewedMultidisciplinary Digital Publishing InstituteJunta de Castilla y LeónCentro de Investigación Biomédica en Red Cáncer (España)Instituto de Salud Carlos IIIMinisterio de Economía y Competitividad (España)0000-0001-8947-88090000-0002-0007-72300000-0002-4430-9806Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]202420242024info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10261/367205https://api.elsevier.com/content/abstract/scopus_id/85194150523reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)InglésThe underlying dataset has been published as supplementary material of the article in the publisher platform at DOI https://doi.org/10.3390/biology13050350https://doi.org/10.3390/biology13050350Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/3672052026-05-22T06:33:51Z
dc.title.none.fl_str_mv Paired Primary and Recurrent Rhabdoid Meningiomas: Cytogenetic Alterations, BAP1 Gene Expression Profile and Patient Outcome
title Paired Primary and Recurrent Rhabdoid Meningiomas: Cytogenetic Alterations, BAP1 Gene Expression Profile and Patient Outcome
spellingShingle Paired Primary and Recurrent Rhabdoid Meningiomas: Cytogenetic Alterations, BAP1 Gene Expression Profile and Patient Outcome
Garrido Ruiz, Patricia Alejandra
Rhabdoid meningioma
Primary tumor
Recurrence
Genetic instability
BAP1
Prognosis
Follow-up
Chromosomal changes
http://metadata.un.org/sdg/3
Ensure healthy lives and promote well-being for all at all ages
title_short Paired Primary and Recurrent Rhabdoid Meningiomas: Cytogenetic Alterations, BAP1 Gene Expression Profile and Patient Outcome
title_full Paired Primary and Recurrent Rhabdoid Meningiomas: Cytogenetic Alterations, BAP1 Gene Expression Profile and Patient Outcome
title_fullStr Paired Primary and Recurrent Rhabdoid Meningiomas: Cytogenetic Alterations, BAP1 Gene Expression Profile and Patient Outcome
title_full_unstemmed Paired Primary and Recurrent Rhabdoid Meningiomas: Cytogenetic Alterations, BAP1 Gene Expression Profile and Patient Outcome
title_sort Paired Primary and Recurrent Rhabdoid Meningiomas: Cytogenetic Alterations, BAP1 Gene Expression Profile and Patient Outcome
dc.creator.none.fl_str_mv Garrido Ruiz, Patricia Alejandra
Rodriguez, Álvaro Otero
Corchete, Luis A.
Zelaya Huerta, Victoria
Pasco Peña, Alejandro
Caballero Martínez, Cristina
González-Carreró Fojón, Joaquín
Catalina Fernández, Inmaculada
López Duque, Juan Carlos
Zaldumbide Dueñas, Laura
Mosteiro González, Lorena
Astudillo, María Aurora
Hernández-Laín, Aurelio
Camacho Urkaray, Emma Natalia
Viguri Diaz, María Amparo
Orfao, Alberto
Tabernero, María D.
author Garrido Ruiz, Patricia Alejandra
author_facet Garrido Ruiz, Patricia Alejandra
Rodriguez, Álvaro Otero
Corchete, Luis A.
Zelaya Huerta, Victoria
Pasco Peña, Alejandro
Caballero Martínez, Cristina
González-Carreró Fojón, Joaquín
Catalina Fernández, Inmaculada
López Duque, Juan Carlos
Zaldumbide Dueñas, Laura
Mosteiro González, Lorena
Astudillo, María Aurora
Hernández-Laín, Aurelio
Camacho Urkaray, Emma Natalia
Viguri Diaz, María Amparo
Orfao, Alberto
Tabernero, María D.
author_role author
author2 Rodriguez, Álvaro Otero
Corchete, Luis A.
Zelaya Huerta, Victoria
Pasco Peña, Alejandro
Caballero Martínez, Cristina
González-Carreró Fojón, Joaquín
Catalina Fernández, Inmaculada
López Duque, Juan Carlos
Zaldumbide Dueñas, Laura
Mosteiro González, Lorena
Astudillo, María Aurora
Hernández-Laín, Aurelio
Camacho Urkaray, Emma Natalia
Viguri Diaz, María Amparo
Orfao, Alberto
Tabernero, María D.
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Junta de Castilla y León
Centro de Investigación Biomédica en Red Cáncer (España)
Instituto de Salud Carlos III
Ministerio de Economía y Competitividad (España)
0000-0001-8947-8809
0000-0002-0007-7230
0000-0002-4430-9806
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Rhabdoid meningioma
Primary tumor
Recurrence
Genetic instability
BAP1
Prognosis
Follow-up
Chromosomal changes
http://metadata.un.org/sdg/3
Ensure healthy lives and promote well-being for all at all ages
topic Rhabdoid meningioma
Primary tumor
Recurrence
Genetic instability
BAP1
Prognosis
Follow-up
Chromosomal changes
http://metadata.un.org/sdg/3
Ensure healthy lives and promote well-being for all at all ages
description Rhabdoid meningiomas (RM) are a rare meningioma subtype with a heterogeneous clinical course which is more frequently associated with recurrence, even among tumors undergoing-complete surgical removal. Here, we retrospectively analyzed the clinical-histopathological and cytogenetic features of 29 tumors, from patients with recurrent (seven primary and 14 recurrent tumors) vs. non-recurrent RM (n = 8). Recurrent RM showed one (29%), two (29%) or three (42%) recurrences. BAP1 loss of expression was found in one third of all RM at diagnosis and increased to 100% in subsequent tumor recurrences. Despite both recurrent and non-recurrent RM shared chromosome 22 losses, non-recurrent tumors more frequently displayed extensive losses of chromosome 19p (62%) and/or 19q (50%), together with gains of chromosomes 20 and 21 (38%, respectively), whereas recurrent RM (at diagnosis) displayed more complex genotypic profiles with extensive losses of chromosomes 1p, 14q, 18p, 18q (67% each) and 21p (50%), together with focal gains at chromosome 17q22 (67%). Compared to paired primary tumors, recurrent RM samples revealed additional losses at chromosomes 16q and 19p (50% each), together with gains at chromosomes 1q and 17q in most recurrent tumors (67%, each). All deceased recurrent RM patients corresponded to women with chromosome 17q gains, although no statistical significant differences were found vs. the other RM patients.
publishDate 2024
dc.date.none.fl_str_mv 2024
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
Publisher's version
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/367205
https://api.elsevier.com/content/abstract/scopus_id/85194150523
url http://hdl.handle.net/10261/367205
https://api.elsevier.com/content/abstract/scopus_id/85194150523
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv The underlying dataset has been published as supplementary material of the article in the publisher platform at DOI https://doi.org/10.3390/biology13050350
https://doi.org/10.3390/biology13050350
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Multidisciplinary Digital Publishing Institute
publisher.none.fl_str_mv Multidisciplinary Digital Publishing Institute
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,812429

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