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| Home > Publications database > Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome. > print |
| 001 | 124447 | ||
| 005 | 20240228145515.0 | ||
| 024 | 7 | _ | |a 10.1111/bpa.12413 |2 doi |
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| 041 | _ | _ | |a eng |
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| 100 | 1 | _ | |a Johann, Pascal |0 P:(DE-He78)3fdc3623477264cb5d0e14f256dbfbb8 |b 0 |e First author |u dkfz |
| 245 | _ | _ | |a Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome. |
| 260 | _ | _ | |a Oxford |c 2017 |b Wiley-Blackwell |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1660747460_30405 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a 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. |
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| 700 | 1 | _ | |a Hovestadt, Volker |0 P:(DE-He78)744146d3b5a3df1e0ac555e5bf1ee5cc |b 1 |u dkfz |
| 700 | 1 | _ | |a Thomas, Christian |b 2 |
| 700 | 1 | _ | |a Jeibmann, Astrid |b 3 |
| 700 | 1 | _ | |a Heß, Katharina |b 4 |
| 700 | 1 | _ | |a Bens, Susanne |b 5 |
| 700 | 1 | _ | |a Oyen, Florian |b 6 |
| 700 | 1 | _ | |a Hawkins, Cynthia |b 7 |
| 700 | 1 | _ | |a Pierson, Christopher R |b 8 |
| 700 | 1 | _ | |a Aldape, Kenneth |b 9 |
| 700 | 1 | _ | |a Kim, Sang-Pyo |b 10 |
| 700 | 1 | _ | |a Widing, Eva |b 11 |
| 700 | 1 | _ | |a Sumerauer, David |b 12 |
| 700 | 1 | _ | |a Hauser, Péter |b 13 |
| 700 | 1 | _ | |a van Landeghem, Frank |b 14 |
| 700 | 1 | _ | |a Ryzhova, Marina |b 15 |
| 700 | 1 | _ | |a Korshunov, Andrey |0 P:(DE-He78)8d9c904a6cea14d4c99c78ba46e41f93 |b 16 |u dkfz |
| 700 | 1 | _ | |a Capper, David |0 P:(DE-He78)51bf9ae9cb5771b30c483e5597ef606c |b 17 |u dkfz |
| 700 | 1 | _ | |a Jones, David |0 P:(DE-He78)551bb92841f634070997aa168d818492 |b 18 |u dkfz |
| 700 | 1 | _ | |a Pfister, Stefan |0 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9 |b 19 |u dkfz |
| 700 | 1 | _ | |a Schneppenheim, Reinhard |b 20 |
| 700 | 1 | _ | |a Siebert, Reiner |b 21 |
| 700 | 1 | _ | |a Paulus, Werner |b 22 |
| 700 | 1 | _ | |a Frühwald, Michael C |b 23 |
| 700 | 1 | _ | |a Kool, Marcel |0 P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8 |b 24 |u dkfz |
| 700 | 1 | _ | |a Hasselblatt, Martin |b 25 |
| 773 | _ | _ | |a 10.1111/bpa.12413 |g Vol. 27, no. 4, p. 411 - 418 |0 PERI:(DE-600)2029927-8 |n 4 |p 411 - 418 |t Brain pathology |v 27 |y 2017 |x 1015-6305 |
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