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| 001 | 167356 | ||
| 005 | 20240229133538.0 | ||
| 024 | 7 | _ | |a 10.1186/s40478-021-01118-5 |2 doi |
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| 041 | _ | _ | |a eng |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Korshunov, Andrey |0 P:(DE-He78)8d9c904a6cea14d4c99c78ba46e41f93 |b 0 |e First author |
| 245 | _ | _ | |a Molecular analysis of pediatric CNS-PNET revealed nosologic heterogeneity and potent diagnostic markers for CNS neuroblastoma with FOXR2-activation. |
| 260 | _ | _ | |a London |c 2021 |b Biomed Central |
| 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 1638439963_4151 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
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| 500 | _ | _ | |a #EA:B300#LA:B300# |
| 520 | _ | _ | |a Primitive neuroectodermal tumors of the central nervous system (CNS-PNETs) are highly malignant neoplasms posing diagnostic challenge due to a lack of defining molecular markers. CNS neuroblastoma with forkhead box R2 (FOXR2) activation (CNS_NBL) emerged as a distinct pediatric brain tumor entity from a pool previously diagnosed as primitive neuroectodermal tumors of the central nervous system (CNS-PNETs). Current standard of identifying CNS_NBL relies on molecular analysis. We set out to establish immunohistochemical markers allowing safely distinguishing CNS_NBL from morphological mimics. To this aim we analyzed a series of 84 brain tumors institutionally diagnosed as CNS-PNET. As expected, epigenetic analysis revealed different methylation groups corresponding to the (1) CNS-NBL (24%), (2) glioblastoma IDH wild-type subclass H3.3 G34 (26%), (3) glioblastoma IDH wild-type subclass MYCN (21%) and (4) ependymoma with RELA_C11orf95 fusion (29%) entities. Transcriptome analysis of this series revealed a set of differentially expressed genes distinguishing CNS_NBL from its mimics. Based on RNA-sequencing data we established SOX10 and ANKRD55 expression as genes discriminating CNS_NBL from other tumors exhibiting CNS-PNET. Immunohistochemical detection of combined expression of SOX10 and ANKRD55 clearly identifies CNS_NBL discriminating them to other hemispheric CNS neoplasms harboring 'PNET-like' microscopic appearance. Owing the rarity of CNS_NBL, a confirmation of the elaborated diagnostic IHC algorithm will be necessary in prospective patient series. |
| 536 | _ | _ | |a 312 - Funktionelle und strukturelle Genomforschung (POF4-312) |0 G:(DE-HGF)POF4-312 |c POF4-312 |f POF IV |x 0 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, |
| 650 | _ | 7 | |a CNS-PNET |2 Other |
| 650 | _ | 7 | |a FOXR2-activation |2 Other |
| 650 | _ | 7 | |a Neuroblastoma |2 Other |
| 650 | _ | 7 | |a SOX10 |2 Other |
| 700 | 1 | _ | |a Okonechnikov, Konstantin |0 P:(DE-He78)34b3639de467b2c700920d7cbc3d2110 |b 1 |
| 700 | 1 | _ | |a Schmitt-Hoffner, Felix |0 P:(DE-He78)fce464e68d8888e5e7be72b7a197bca7 |b 2 |
| 700 | 1 | _ | |a Ryzhova, Marina |b 3 |
| 700 | 1 | _ | |a Sahm, Felix |0 P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88 |b 4 |
| 700 | 1 | _ | |a Stichel, Damian |0 P:(DE-He78)d20d08adc992abdb6ccffa1686f1ba17 |b 5 |
| 700 | 1 | _ | |a Schrimpf, Daniel |0 P:(DE-He78)e54a1e0999c1d8c95869ef9188b794cc |b 6 |
| 700 | 1 | _ | |a Reuss, David E |0 P:(DE-He78)d5149ffd74f42a2fa87a086d66645aaa |b 7 |
| 700 | 1 | _ | |a Sievers, Philipp |0 P:(DE-He78)8aad075b17d93a5636a34942bdbd7ee6 |b 8 |
| 700 | 1 | _ | |a Suwala, Abigail Kora |0 P:(DE-He78)c77fccff3e6c42b017b2e8a09813590c |b 9 |
| 700 | 1 | _ | |a Kumirova, Ella |b 10 |
| 700 | 1 | _ | |a Zheludkova, Olga |b 11 |
| 700 | 1 | _ | |a Golanov, Andrey |0 P:(DE-HGF)0 |b 12 |
| 700 | 1 | _ | |a Jones, David T W |0 P:(DE-He78)551bb92841f634070997aa168d818492 |b 13 |
| 700 | 1 | _ | |a Pfister, Stefan M |0 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9 |b 14 |
| 700 | 1 | _ | |a Kool, Marcel |0 P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8 |b 15 |
| 700 | 1 | _ | |a von Deimling, Andreas |0 P:(DE-He78)a8a10626a848d31e70cfd96a133cc144 |b 16 |e Last author |
| 773 | _ | _ | |a 10.1186/s40478-021-01118-5 |g Vol. 9, no. 1, p. 20 |0 PERI:(DE-600)2715589-4 |n 1 |p 20 |t Acta Neuropathologica Communications |v 9 |y 2021 |x 2051-5960 |
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