Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome

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|||0000-0002-1703-742X, Aguado Sorolla, María|||0009-0009-6138-3467, Ramon y Cajal, Teresa|||0000-0003-3490-3585, Gallardo, Alberto|||0000-0002-2514-2027, Catasús Cols, Lluís|||0000-0001-6075-6238, Gonzalez, Allan, Méndez Escalante, Jorge Eliecer|||0000-0002-1199-3840, Lasa, Adriana|||0000-0001-9957-9646, Arumi, Montse, Gallego Rubio, Oscar|||0000-0001-5665-0967, Balart, Josep|||0000-0002-1173-7556, Muñoz Hernandez, Fernando|||0000-0002-5827-0519, von Deimling, Andreas, Kommoss, Felix K.F.|||0000-0003-0876-9087, Espinosa, Iñigo|||0009-0007-0818-1191
Tipo de recurso: artículo
Fecha de publicación:2024
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:306960
Acceso en línea:https://ddd.uab.cat/record/306960
https://dx.doi.org/urn:doi: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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