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

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• dc.contributor.author Campos Mármol, María Concepción
• dc.contributor.author Aguado, María
• dc.contributor.author Ramón y Cajal, Teresa
• dc.contributor.author Gallardo, Alberto
• dc.contributor.author Catasús, Luis
• dc.contributor.author Gonzalez, Allan
• dc.contributor.author Méndez, Jorge Eliecer
• dc.contributor.author Lasa, Adriana
• dc.contributor.author Arumí, Montserrat
• dc.contributor.author Gallego Rubio, Óscar
• dc.contributor.author Balart Serra, Josep
• dc.contributor.author Muñoz Hernandez, Fernando
• dc.contributor.author von Deimling, Andreas
• dc.contributor.author Kommoss, Felix K. F.
• dc.contributor.author Espinosa, Iñigo
• dc.date.accessioned 2025-07-11T07:02:20Z
• dc.date.available 2025-07-11T07:02:20Z
• dc.date.issued 2024
• dc.description.abstract 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.
• dc.format.mimetype application/pdf
• dc.identifier.citation Campos Mármol MC, Aguado M, Ramón Y Cajal T, Gallardo A, Catasús L, Gonzalez A, et al. Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature. Pathologica. 2024 Jun;116(3):170-5. DOI: 10.32074/1591-951X-970
• dc.identifier.doi http://dx.doi.org/10.32074/1591-951X-970
• dc.identifier.issn 0031-2983
• dc.identifier.uri http://hdl.handle.net/10230/70892
• dc.language.iso eng
• dc.publisher Pacini Editore
• dc.relation.ispartof Pathologica. 2024 Jun;116(3):170-5
• dc.rights This 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.en
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by-nc-nd/4.0/
• dc.subject.keyword DICER1 syndrome
• dc.subject.keyword DICER1, DNA methylation-based CNS tumor classifier
• dc.subject.keyword Embryonal tumor with multilayered rosettes
• dc.title Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion