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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; Arumi, Montse; Gallego Rubio, Oscar; Serra, Josep Balart; Muñoz Hernandez, Fernando; von Deimling, Andreas; Kommoss, Felix K F; Espinosa, Iñigo.
Affiliation
  • Campos Mármol MC; Department of Pathology, Hospital General de Granollers, Granollers, Spain.
  • Aguado M; Department of Oncology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
  • Ramón Y Cajal T; Genetic Counselling Unit, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
  • Gallardo A; Department of Pathology, Hospital de la Santa Creu i Sant Pau, Institute of Biomedical Research (IIB Sant Pau), Autonomous University of Barcelona, Barcelona, Spain.
  • Catasús L; Department of Pathology, Hospital de la Santa Creu i Sant Pau, Institute of Biomedical Research (IIB Sant Pau), Autonomous University of Barcelona, Barcelona, Spain.
  • Gonzalez A; Department of Pathology, Hospital de la Santa Creu i Sant Pau, Institute of Biomedical Research (IIB Sant Pau), Autonomous University of Barcelona, Barcelona, Spain.
  • Méndez JE; Department of Radiology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
  • Lasa A; Department of Genetics, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
  • Arumi M; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Gallego Rubio O; Department of Pathology, Hospital del Mar, Barcelona, Spain.
  • Serra JB; Department of Oncology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
  • Muñoz Hernandez F; Department of Radiotherapeutic Oncology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
  • von Deimling A; Department of Neurosurgery, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
  • Kommoss FKF; Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany and Clinical Cooperation Unit Neuropathology, German Consortium for Translational Cancer Research (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Espinosa I; Department of Pathology, Heidelberg University Hospital, Heidelberg, Germany.
Pathologica ; 116(3): 170-175, 2024 Jun.
Article in En | MEDLINE | ID: mdl-38979591
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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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neoplasms, Germ Cell and Embryonal / Ribonuclease III / DEAD-box RNA Helicases Limits: Adolescent / Female / Humans Language: En Journal: Pathologica Year: 2024 Type: Article Affiliation country: Spain
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neoplasms, Germ Cell and Embryonal / Ribonuclease III / DEAD-box RNA Helicases Limits: Adolescent / Female / Humans Language: En Journal: Pathologica Year: 2024 Type: Article Affiliation country: Spain