TY - JOUR
T1 - Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome :
T2 - case report and review of the literature
AU - Concepción Campos Mármol, M.
AU - Aguado, M.
AU - Ramón y Cajal, Teresa
AU - Gallardo, Alberto
AU - Catasús, L.
AU - Gonzalez, A.
AU - Eliecer Méndez, Jorge
AU - Lasa, Adriana
AU - Arumi, M.
AU - Gallego Rubio, Oscar
AU - Balart Serra, Josep
AU - Muñoz Hernandez, Fernando
AU - von Deimling, A.
AU - Kommoss, F.K.F.
AU - Espinosa, Iñigo
PY - 2024
Y1 - 2024
N2 - 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.
AB - 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.
KW - DICER1 syndrome
KW - DICER1
KW - DNA methylation-based CNS tumor classifier
KW - embryonal tumor with multilayered rosettes
U2 - 10.32074/1591-951X-970
DO - 10.32074/1591-951X-970
M3 - Article
C2 - 38979591
SN - 0031-2983
VL - 116
SP - 170
EP - 175
JO - Pathologica
JF - Pathologica
IS - 3
ER -