TY  - JOUR
AU  - Thomas, Christian
AU  - Thierfelder, Felix
AU  - Träger, Malte
AU  - Soschinski, Patrick
AU  - Müther, Michael
AU  - Edelmann, Dominic
AU  - Förster, Alexandra
AU  - Geiler, Carola
AU  - Kim, Hee-Yeong
AU  - Filipski, Katharina
AU  - Harter, Patrick
AU  - Schittenhelm, Jens
AU  - Eckert, Franziska
AU  - Ntoulias, Georgios
AU  - May, Sven-Axel
AU  - Stummer, Walter
AU  - Onken, Julia
AU  - Vajkoczy, Peter
AU  - Schüller, Ulrich
AU  - Heppner, Frank L
AU  - Capper, David
AU  - Koch, Arend
AU  - Kaul, David
AU  - Paulus, Werner
AU  - Hasselblatt, Martin
AU  - Schweizer, Leonille
TI  - TERT promoter mutation and chromosome 6 loss define a high-risk subtype of ependymoma evolving from posterior fossa subependymoma.
JO  - Acta neuropathologica
VL  - 141
IS  - 6
SN  - 1432-0533
CY  - Heidelberg
PB  - Springer
M1  - DKFZ-2021-00694
SP  - 959-970
PY  - 2021
N1  - 141(6):959-970
AB  - Subependymomas are benign tumors characteristically encountered in the posterior fossa of adults that show distinct epigenetic profiles assigned to the molecular group 'subependymoma, posterior fossa' (PFSE) of the recently established DNA methylation-based classification of central nervous system tumors. In contrast, most posterior fossa ependymomas exhibit a more aggressive biological behavior and are allocated to the molecular subgroups PFA or PFB. A subset of ependymomas shows epigenetic similarities with subependymomas, but the precise biology of these tumors and their potential relationships remain unknown. We therefore set out to characterize epigenetic traits, mutational profiles, and clinical outcomes of 50 posterior fossa ependymal tumors of the PFSE group. On histo-morphology, these tumors comprised 12 ependymomas, 14 subependymomas and 24 tumors with mixed ependymoma-subependymoma morphology. Mixed ependymoma-subependymoma tumors varied in their extent of ependymoma differentiation (2-95
KW  - Chromosome 6 (Other)
KW  - DNA methylation (Other)
KW  - Mixed ependymoma–subependymoma (Other)
KW  - Subependymoma (Other)
KW  - TERT (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:33755803
DO  - DOI:10.1007/s00401-021-02300-8
UR  - https://inrepo02.dkfz.de/record/168126
ER  -