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dc.contributor.author Johann PD
dc.contributor.author Hovestadt V
dc.contributor.author Thomas C
dc.contributor.author Jeibmann A
dc.contributor.author Hess K
dc.contributor.author Bens S
dc.contributor.author Oyen F
dc.contributor.author Hawkins C
dc.contributor.author Pierson CR
dc.contributor.author Aldape K
dc.contributor.author Kim SP
dc.contributor.author Widing E
dc.contributor.author Sumerauer D
dc.contributor.author Hauser, Péter
dc.contributor.author van Landeghem F
dc.contributor.author Ryzhova M
dc.contributor.author Korshunov A
dc.contributor.author Capper D
dc.contributor.author Jones DT
dc.contributor.author Pfister SM
dc.contributor.author Schneppenheim R
dc.contributor.author Siebert R
dc.contributor.author Paulus W
dc.contributor.author Fruhwald MC
dc.contributor.author Kool M
dc.contributor.author Hasselblatt M
dc.date.accessioned 2017-06-12T11:00:27Z
dc.date.available 2017-06-12T11:00:27Z
dc.date.issued 2017
dc.identifier.citation pagination=411-418; journalVolume=27; journalIssueNumber=4; journalTitle=BRAIN PATHOLOGY;
dc.identifier.uri http://repo.lib.semmelweis.hu//handle/123456789/4279
dc.identifier.uri doi:10.1111/bpa.12413
dc.description.abstract 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% confidence interval 100-151 months) as compared to only 53 (33-74) months in patients with ATRTs of the ATRT-TYR subgroup (Log-Rank P < 0.05). In conclusion, CRINET represents a SMARCB1-deficient non-rhabdoid tumor, which shares molecular similarities with the ATRT-TYR subgroup but has distinct histopathological features and favorable long-term outcome.
dc.relation.ispartof urn:issn:1015-6305
dc.title Cribriform neuroepithelial tumor: Molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome.
dc.type Journal Article
dc.date.updated 2017-04-05T13:17:18Z
dc.language.rfc3066 en
dc.identifier.mtmt 3104827
dc.identifier.pubmed 27380723
dc.contributor.department SE/AOK/K/II. Sz. Gyermekgyógyászati Klinika
dc.contributor.institution Semmelweis Egyetem


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