TY  - JOUR
AU  - Johann, Pascal
AU  - Hovestadt, Volker
AU  - Thomas, Christian
AU  - Jeibmann, Astrid
AU  - Heß, Katharina
AU  - Bens, Susanne
AU  - Oyen, Florian
AU  - Hawkins, Cynthia
AU  - Pierson, Christopher R
AU  - Aldape, Kenneth
AU  - Kim, Sang-Pyo
AU  - Widing, Eva
AU  - Sumerauer, David
AU  - Hauser, Péter
AU  - van Landeghem, Frank
AU  - Ryzhova, Marina
AU  - Korshunov, Andrey
AU  - Capper, David
AU  - Jones, David
AU  - Pfister, Stefan
AU  - Schneppenheim, Reinhard
AU  - Siebert, Reiner
AU  - Paulus, Werner
AU  - Frühwald, Michael C
AU  - Kool, Marcel
AU  - Hasselblatt, Martin
TI  - Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome.
JO  - Brain pathology
VL  - 27
IS  - 4
SN  - 1015-6305
CY  - Oxford
PB  - Wiley-Blackwell
M1  - DKFZ-2017-01324
SP  - 411 - 418
PY  - 2017
AB  - 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
LB  - PUB:(DE-HGF)16
C6  - pmid:27380723
DO  - DOI:10.1111/bpa.12413
UR  - https://inrepo02.dkfz.de/record/124447
ER  -