1.
Pathologica
; 116(3): 170-175, 2024 Jun.
Article
in English
| 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.
Subject(s)
DEAD-box RNA Helicases , Neoplasms, Germ Cell and Embryonal , Ribonuclease III , Humans , Female , Ribonuclease III/genetics , DEAD-box RNA Helicases/genetics , Adolescent , Neoplasms, Germ Cell and Embryonal/genetics , Neoplasms, Germ Cell and Embryonal/pathology , DNA Methylation
2.
Acta Otorrinolaringol Esp (Engl Ed)
; 71(5): 328-329, 2020.
Article
in English, Spanish
| MEDLINE
| ID: mdl-31582173