guest ::
| Home > Publications database > VGLL-fusions define a new class of intraparenchymal CNS schwannoma. > print |
| Home > Publications database > VGLL-fusions define a new class of intraparenchymal CNS schwannoma. > print |
| 001 | 296129 | ||
| 005 | 20250520141012.0 | ||
| 024 | 7 | _ | |a 10.1093/neuonc/noae269 |2 doi |
| 024 | 7 | _ | |a pmid:39713960 |2 pmid |
| 024 | 7 | _ | |a 1522-8517 |2 ISSN |
| 024 | 7 | _ | |a 1523-5866 |2 ISSN |
| 024 | 7 | _ | |a altmetric:172379733 |2 altmetric |
| 037 | _ | _ | |a DKFZ-2025-00059 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Schmid, Simone |0 P:(DE-He78)6e4a8cc4eb35e694f95453ed8a927a83 |b 0 |u dkfz |
| 245 | _ | _ | |a VGLL-fusions define a new class of intraparenchymal CNS schwannoma. |
| 260 | _ | _ | |a Oxford |c 2025 |b Oxford Univ. Press |
| 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 1747742970_3488 |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 |
| 500 | _ | _ | |a 2025 May 15;27(4):1031-1045 |
| 520 | _ | _ | |a Intracerebral schwannomas are rare tumors resembling their peripheral nerve sheath counterparts but localized in the CNS. They are not classified as a separate tumor type in the 2021 WHO classification. This study aimed to compile and characterize these rare neoplasms morphologically and molecularly.We analyzed 20 tumor samples by histology, RNA Next-Generation Sequencing, DNA-methylation profiling, copy number analyses, and single nucleus RNA sequencing (snRNA-seq). Clinical data, including age, sex, and disease progression, were collected. MRI series were included when available.All cases with tissue available for histology review (n=13) were morphologically consistent with intracerebral schwannoma, but differed in their extent of GFAP staining. All (n=20) shared DNA-methylation profiles distinct from other CNS tumors, as well as from VGLL-altered peripheral nerve sheath tumors. Most cases (n=14/17) harbored fusions of either VGLL3 or VGLL1 (CHD7::VGLL3 (n=9/17) and EWSR1::VGLL1 (n=5/17)). In two cases the presence of a VGLL3 fusion was also confirmed by CNA analyses (n=2/17). MRI (n=4) showed well-defined, nodular tumors with strong, homogeneous enhancement and no diffusion restriction. Tumors were located throughout the neuroaxis [supratentorial (n=15), infratentorial (n=4), and spinal (n=1)]. snRNA-seq of a VGLL1-fused tumor indicated VGLL1 upregulation in 28.6% of tumor cells (n=1). During median follow-up of 1.8 years (range 3 months-9 years), none of the tumors recurred (n=10).We identify and define a new benign tumor class, designated VGLL-altered intraparenchymal CNS schwannomas. These tumors feature VGLL alterations and a specific DNA-methylation profile, with schwannoma-like histopathology and CNS localization, akin to previously classified intracerebral schwannomas. |
| 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, , Journals: inrepo02.dkfz.de |
| 650 | _ | 7 | |a VGLL |2 Other |
| 650 | _ | 7 | |a gliofibroma |2 Other |
| 650 | _ | 7 | |a glioma |2 Other |
| 650 | _ | 7 | |a schwannoma |2 Other |
| 650 | _ | 7 | |a tumor |2 Other |
| 700 | 1 | _ | |a Mirchia, Kanish |0 0000-0002-7371-7059 |b 1 |
| 700 | 1 | _ | |a Tietze, Anna |b 2 |
| 700 | 1 | _ | |a Liu, Ilon |0 0000-0002-6186-3630 |b 3 |
| 700 | 1 | _ | |a Siewert, Christin |b 4 |
| 700 | 1 | _ | |a Nückles, Jakob |b 5 |
| 700 | 1 | _ | |a Schittenhelm, Jens |0 0000-0002-9168-6209 |b 6 |
| 700 | 1 | _ | |a Behling, Felix |b 7 |
| 700 | 1 | _ | |a Snuderl, Matija |0 0000-0003-0752-0917 |b 8 |
| 700 | 1 | _ | |a Hartmann, Christian |b 9 |
| 700 | 1 | _ | |a Brandner, Sebastian |0 0000-0002-9821-0342 |b 10 |
| 700 | 1 | _ | |a Paine, Simon M L |0 0000-0002-1434-3931 |b 11 |
| 700 | 1 | _ | |a Korshunov, Andrey |0 P:(DE-He78)8d9c904a6cea14d4c99c78ba46e41f93 |b 12 |u dkfz |
| 700 | 1 | _ | |a Hasselblatt, Martin |0 0000-0003-2707-8484 |b 13 |
| 700 | 1 | _ | |a Coras, Roland |b 14 |
| 700 | 1 | _ | |a Epari, Sridhar |0 0000-0002-1038-5755 |b 15 |
| 700 | 1 | _ | |a Stadelmann, Christine |0 0000-0003-1766-5458 |b 16 |
| 700 | 1 | _ | |a Zechel, Sabrina |0 0000-0001-5385-2766 |b 17 |
| 700 | 1 | _ | |a Simon, Michèle |b 18 |
| 700 | 1 | _ | |a Wilson, Yelena |0 0000-0003-1725-0041 |b 19 |
| 700 | 1 | _ | |a Gianno, Francesca |0 0000-0002-6223-9952 |b 20 |
| 700 | 1 | _ | |a Calixto-Hope, G Lucas |b 21 |
| 700 | 1 | _ | |a Zherebitskiy, Viktor |b 22 |
| 700 | 1 | _ | |a Kaimaktchiev, Vassil B |b 23 |
| 700 | 1 | _ | |a Robinson, Lorraina |0 0009-0005-1098-4909 |b 24 |
| 700 | 1 | _ | |a Aldape, Kenneth |0 0000-0001-5119-7550 |b 25 |
| 700 | 1 | _ | |a Hoving, Eelco W |b 26 |
| 700 | 1 | _ | |a Tops, Bastiaan B J |b 27 |
| 700 | 1 | _ | |a Perera, Ashwyn Augustine |0 P:(DE-He78)a42658b653667a6ef624186eb844fe10 |b 28 |u dkfz |
| 700 | 1 | _ | |a Göller, Pauline |b 29 |
| 700 | 1 | _ | |a Hernáiz Driever, Pablo |b 30 |
| 700 | 1 | _ | |a Wesseling, Pieter |b 31 |
| 700 | 1 | _ | |a Koch, Arend |0 0000-0001-8589-4688 |b 32 |
| 700 | 1 | _ | |a Perry, Arie |0 0000-0002-8300-7261 |b 33 |
| 700 | 1 | _ | |a Sahm, Felix |0 P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88 |b 34 |u dkfz |
| 700 | 1 | _ | |a Jones, David |0 P:(DE-He78)551bb92841f634070997aa168d818492 |b 35 |u dkfz |
| 700 | 1 | _ | |a Capper, David |0 P:(DE-He78)51bf9ae9cb5771b30c483e5597ef606c |b 36 |u dkfz |
| 773 | _ | _ | |a 10.1093/neuonc/noae269 |g p. noae269 |0 PERI:(DE-600)2094060-9 |n 4 |p 1031-1045 |t Neuro-Oncology |v 27 |y 2025 |x 1522-8517 |
| 909 | C | O | |p VDB |o oai:inrepo02.dkfz.de:296129 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 0 |6 P:(DE-He78)6e4a8cc4eb35e694f95453ed8a927a83 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 12 |6 P:(DE-He78)8d9c904a6cea14d4c99c78ba46e41f93 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 28 |6 P:(DE-He78)a42658b653667a6ef624186eb844fe10 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 34 |6 P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 35 |6 P:(DE-He78)551bb92841f634070997aa168d818492 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 36 |6 P:(DE-He78)51bf9ae9cb5771b30c483e5597ef606c |
| 913 | 1 | _ | |a DE-HGF |b Gesundheit |l Krebsforschung |1 G:(DE-HGF)POF4-310 |0 G:(DE-HGF)POF4-312 |3 G:(DE-HGF)POF4 |2 G:(DE-HGF)POF4-300 |4 G:(DE-HGF)POF |v Funktionelle und strukturelle Genomforschung |x 0 |
| 914 | 1 | _ | |y 2024 |
| 915 | _ | _ | |a Nationallizenz |0 StatID:(DE-HGF)0420 |2 StatID |d 2023-10-24 |w ger |
| 915 | _ | _ | |a JCR |0 StatID:(DE-HGF)0100 |2 StatID |b NEURO-ONCOLOGY : 2022 |d 2023-10-24 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0200 |2 StatID |b SCOPUS |d 2023-10-24 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0300 |2 StatID |b Medline |d 2023-10-24 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0320 |2 StatID |b PubMed Central |d 2023-10-24 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0199 |2 StatID |b Clarivate Analytics Master Journal List |d 2023-10-24 |
| 915 | _ | _ | |a WoS |0 StatID:(DE-HGF)0113 |2 StatID |b Science Citation Index Expanded |d 2023-10-24 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0150 |2 StatID |b Web of Science Core Collection |d 2023-10-24 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0160 |2 StatID |b Essential Science Indicators |d 2023-10-24 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1110 |2 StatID |b Current Contents - Clinical Medicine |d 2023-10-24 |
| 915 | _ | _ | |a IF >= 15 |0 StatID:(DE-HGF)9915 |2 StatID |b NEURO-ONCOLOGY : 2022 |d 2023-10-24 |
| 920 | 1 | _ | |0 I:(DE-He78)B300-20160331 |k B300 |l KKE Neuropathologie |x 0 |
| 920 | 1 | _ | |0 I:(DE-He78)HD01-20160331 |k HD01 |l DKTK HD zentral |x 1 |
| 920 | 1 | _ | |0 I:(DE-He78)B360-20160331 |k B360 |l Pädiatrische Gliomforschung |x 2 |
| 920 | 1 | _ | |0 I:(DE-He78)BE01-20160331 |k BE01 |l DKTK Koordinierungsstelle Berlin |x 3 |
| 980 | _ | _ | |a journal |
| 980 | _ | _ | |a VDB |
| 980 | _ | _ | |a I:(DE-He78)B300-20160331 |
| 980 | _ | _ | |a I:(DE-He78)HD01-20160331 |
| 980 | _ | _ | |a I:(DE-He78)B360-20160331 |
| 980 | _ | _ | |a I:(DE-He78)BE01-20160331 |
| 980 | _ | _ | |a UNRESTRICTED |
| Library | Collection | CLSMajor | CLSMinor | Language | Author |
|---|