Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature

Embryonal tumors with multilayered rosettes (ETMR) are highly aggressive and therapy-resistant pediatric central nervous system (CNS) tumors that have three histological patters: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, and medulloepithelioma. We present a case of...

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Authors: Campos Mármol, María Concepción, Aguado, María, Ramón y Cajal, Teresa, Gallardo, Alberto, Catasús, Luis, Gonzalez, Allan, Méndez, Jorge Eliecer, Lasa, Adriana, Arumí, Montserrat, Gallego Rubio, Óscar, Balart Serra, Josep, Muñoz Hernandez, Fernando, von Deimling, Andreas, Kommoss, Felix K. F., Espinosa, Iñigo
Format: article
Status:Published version
Publication Date:2024
Country:España
Institution:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repository:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10230/70892
Online Access:http://hdl.handle.net/10230/70892
http://dx.doi.org/10.32074/1591-951X-970
Access Level:Open access
Keyword:DICER1 syndrome
DICER1, DNA methylation-based CNS tumor classifier
Embryonal tumor with multilayered rosettes
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spelling Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literatureCampos Mármol, María ConcepciónAguado, MaríaRamón y Cajal, TeresaGallardo, AlbertoCatasús, LuisGonzalez, AllanMéndez, Jorge EliecerLasa, AdrianaArumí, MontserratGallego Rubio, ÓscarBalart Serra, JosepMuñoz Hernandez, Fernandovon Deimling, AndreasKommoss, Felix K. F.Espinosa, IñigoDICER1 syndromeDICER1, DNA methylation-based CNS tumor classifierEmbryonal tumor with multilayered rosettesEmbryonal tumors with multilayered rosettes (ETMR) are highly aggressive and therapy-resistant pediatric central nervous system (CNS) tumors that have three histological patters: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, and medulloepithelioma. We present a case of ETMR in an 18-year-old woman with DICER1 syndrome. This report confirms the important role of DNA-methylation analysis in the classification of CNS embryonal tumors and the importance of investigating somatic and germline DICER1 mutations in all CNS embryonal tumors.Pacini Editore202520252024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/70892http://dx.doi.org/10.32074/1591-951X-970http://hdl.handle.net/10230/70892reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésPathologica. 2024 Jun;116(3):170-5This is an open access journal distributed in accordance with the CC-BY-NC-ND (Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International) license: the work can be used by mentioning the author and the license, but only for non-commercial purposes and only in the original version. For further information: https://creativecommons.org/licenses/by-nc-nd/4.0/deed.enhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:10230/708922026-05-29T05:05:01Z
dc.title.none.fl_str_mv Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature
title Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature
spellingShingle Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature
Campos Mármol, María Concepción
DICER1 syndrome
DICER1, DNA methylation-based CNS tumor classifier
Embryonal tumor with multilayered rosettes
title_short Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature
title_full Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature
title_fullStr Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature
title_full_unstemmed Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature
title_sort Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature
dc.creator.none.fl_str_mv Campos Mármol, María Concepción
Aguado, María
Ramón y Cajal, Teresa
Gallardo, Alberto
Catasús, Luis
Gonzalez, Allan
Méndez, Jorge Eliecer
Lasa, Adriana
Arumí, Montserrat
Gallego Rubio, Óscar
Balart Serra, Josep
Muñoz Hernandez, Fernando
von Deimling, Andreas
Kommoss, Felix K. F.
Espinosa, Iñigo
author Campos Mármol, María Concepción
author_facet Campos Mármol, María Concepción
Aguado, María
Ramón y Cajal, Teresa
Gallardo, Alberto
Catasús, Luis
Gonzalez, Allan
Méndez, Jorge Eliecer
Lasa, Adriana
Arumí, Montserrat
Gallego Rubio, Óscar
Balart Serra, Josep
Muñoz Hernandez, Fernando
von Deimling, Andreas
Kommoss, Felix K. F.
Espinosa, Iñigo
author_role author
author2 Aguado, María
Ramón y Cajal, Teresa
Gallardo, Alberto
Catasús, Luis
Gonzalez, Allan
Méndez, Jorge Eliecer
Lasa, Adriana
Arumí, Montserrat
Gallego Rubio, Óscar
Balart Serra, Josep
Muñoz Hernandez, Fernando
von Deimling, Andreas
Kommoss, Felix K. F.
Espinosa, Iñigo
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv DICER1 syndrome
DICER1, DNA methylation-based CNS tumor classifier
Embryonal tumor with multilayered rosettes
topic DICER1 syndrome
DICER1, DNA methylation-based CNS tumor classifier
Embryonal tumor with multilayered rosettes
description Embryonal tumors with multilayered rosettes (ETMR) are highly aggressive and therapy-resistant pediatric central nervous system (CNS) tumors that have three histological patters: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, and medulloepithelioma. We present a case of ETMR in an 18-year-old woman with DICER1 syndrome. This report confirms the important role of DNA-methylation analysis in the classification of CNS embryonal tumors and the importance of investigating somatic and germline DICER1 mutations in all CNS embryonal tumors.
publishDate 2024
dc.date.none.fl_str_mv 2024
2025
2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/70892
http://dx.doi.org/10.32074/1591-951X-970
http://hdl.handle.net/10230/70892
url http://hdl.handle.net/10230/70892
http://dx.doi.org/10.32074/1591-951X-970
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Pathologica. 2024 Jun;116(3):170-5
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by-nc-nd/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Pacini Editore
publisher.none.fl_str_mv Pacini Editore
dc.source.none.fl_str_mv reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,811543

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