María Concepción Campos Mármol, María Aguado, Teresa Ramón Y Cajal, Alberto Gallardo, Luis Catasús, Allan Gonzalez, Jorge Eliecer Méndez, Adriana Lasa, Montse Arumi, Oscar Gallego Rubio, Josep Balart Serra, Fernando Muñoz Hernandez, Andreas von Deimling, Felix K F Kommoss, Iñigo Espinosa
{"title":"Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature.","authors":"María Concepción Campos Mármol, María Aguado, Teresa Ramón Y Cajal, Alberto Gallardo, Luis Catasús, Allan Gonzalez, Jorge Eliecer Méndez, Adriana Lasa, Montse Arumi, Oscar Gallego Rubio, Josep Balart Serra, Fernando Muñoz Hernandez, Andreas von Deimling, Felix K F Kommoss, Iñigo Espinosa","doi":"10.32074/1591-951X-970","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"116 3","pages":"170-175"},"PeriodicalIF":4.4000,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11447652/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"PATHOLOGICA","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32074/1591-951X-970","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0
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.
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