TY  - JOUR
AU  - Korshunov, Andrey
AU  - Sturm, Dominik
AU  - Ryzhova, Marina
AU  - Hovestadt, Volker
AU  - Gessi, Marco
AU  - Jones, David
AU  - Remke, Marc
AU  - Northcott, Paul
AU  - Perry, Arie
AU  - Picard, Daniel
AU  - Rosenblum, Marc
AU  - Antonelli, Manila
AU  - Aronica, Eleonora
AU  - Schüller, Ulrich
AU  - Hasselblatt, Martin
AU  - Woehrer, Adelheid
AU  - Zheludkova, Olga
AU  - Kumirova, Ella
AU  - Puget, Stephanie
AU  - Taylor, Michael D
AU  - Giangaspero, Felice
AU  - Peter Collins, V.
AU  - von Deimling, Andreas
AU  - Lichter, Peter
AU  - Huang, Annie
AU  - Pietsch, Torsten
AU  - Pfister, Stefan
AU  - Kool, Marcel
TI  - Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity.
JO  - Acta neuropathologica
VL  - 128
IS  - 2
SN  - 1432-0533
CY  - Berlin
PB  - Springer
M1  - DKFZ-2017-03696
SP  - 279 - 289
PY  - 2014
AB  - Three histological variants are known within the family of embryonal rosette-forming neuroepithelial brain tumors. These include embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma (EBL), and medulloepithelioma (MEPL). In this study, we performed a comprehensive clinical, pathological, and molecular analysis of 97 cases of these rare brain neoplasms, including genome-wide DNA methylation and copy number profiling of 41 tumors. We identified uniform molecular signatures in all tumors irrespective of histological patterns, indicating that ETANTR, EBL, and MEPL comprise a single biological entity. As such, future WHO classification schemes should consider lumping these variants into a single diagnostic category, such as embryonal tumor with multilayered rosettes (ETMR). We recommend combined LIN28A immunohistochemistry and FISH analysis of the 19q13.42 locus for molecular diagnosis of this tumor category. Recognition of this distinct pediatric brain tumor entity based on the fact that the three histological variants are molecularly and clinically uniform will help to distinguish ETMR from other embryonal CNS tumors and to better understand the biology of these highly aggressive and therapy-resistant pediatric CNS malignancies, possibly leading to alternate treatment strategies.
LB  - PUB:(DE-HGF)16
C6  - pmid:24337497
C2  - pmc:PMC4102829
DO  - DOI:10.1007/s00401-013-1228-0
UR  - https://inrepo02.dkfz.de/record/127673
ER  -