%0 Journal Article
%A Johann, Pascal
%A Hovestadt, Volker
%A Thomas, Christian
%A Jeibmann, Astrid
%A Heß, Katharina
%A Bens, Susanne
%A Oyen, Florian
%A Hawkins, Cynthia
%A Pierson, Christopher R
%A Aldape, Kenneth
%A Kim, Sang-Pyo
%A Widing, Eva
%A Sumerauer, David
%A Hauser, Péter
%A van Landeghem, Frank
%A Ryzhova, Marina
%A Korshunov, Andrey
%A Capper, David
%A Jones, David
%A Pfister, Stefan
%A Schneppenheim, Reinhard
%A Siebert, Reiner
%A Paulus, Werner
%A Frühwald, Michael C
%A Kool, Marcel
%A Hasselblatt, Martin
%T Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome.
%J Brain pathology
%V 27
%N 4
%@ 1015-6305
%C Oxford
%I Wiley-Blackwell
%M DKFZ-2017-01324
%P 411 - 418
%D 2017
%X Rhabdoid phenotype and loss of SMARCB1 expression in a brain tumor are characteristic features of atypical teratoid/rhabdoid tumors (ATRT). Rare non-rhabdoid brain tumors showing cribriform growth pattern and SMARCB1 loss have been designated cribriform neuroepithelial tumor (CRINET). Small case series suggest that CRINETs may have a relatively favorable prognosis. However, the long-term outcome is unclear and it remains uncertain whether CRINET represents a distinct entity or a variant of ATRT. Therefore, 10 CRINETs were clinically and molecularly characterized and compared with 10 ATRTs of each of three recently described molecular subgroups (i.e. ATRT-TYR, ATRT-SHH and ATRT-MYC) using Illumina Infinium HumanMethylation450 arrays, FISH, MLPA, and sequencing. Furthermore, outcome was compared to a larger cohort of 27 children with ATRT-TYR. Median age of the 6 boys and 4 girls harboring a CRINET was 20 months. On histopathological examination, all CRINETs demonstrated a cribriform growth pattern and distinct tyrosinase staining. On unsupervised cluster analysis of methylation data, all CRINETs examined exclusively clustered within the ATRT-TYR molecular subgroup. As ATRT-TYR, CRINETs mainly showed large heterozygous 22q deletions (9/10) and SMARCB1 mutations of the other allele. In two patients, SMARCB1 mutations were also present in the germline. Estimated mean overall survival in patients with CRINETs was 125 months (95
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:27380723
%R 10.1111/bpa.12413
%U https://inrepo02.dkfz.de/record/124447