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; 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

doi:http://dx.doi.org/10.32074/1591-951X-970

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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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

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.