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":"一名患有 DICER1 综合征的年轻女性的非 C19MC 变异胚胎瘤伴多层玫瑰花簇：病例报告和文献综述。","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":"{\"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}","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}
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 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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