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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Detalles Bibliográficos
Autores: 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
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10230/70892
Acceso en línea:http://hdl.handle.net/10230/70892
http://dx.doi.org/10.32074/1591-951X-970
Access Level:acceso abierto
Palabra clave:DICER1 syndrome
DICER1, DNA methylation-based CNS tumor classifier
Embryonal tumor with multilayered rosettes
Descripción
Sumario: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.

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