guest ::
| Home > Publications database > Sellar Region Atypical Teratoid/Rhabdoid Tumors (ATRT) in Adults Display DNA Methylation Profiles of the ATRT-MYC Subgroup. > print |
| Home > Publications database > Sellar Region Atypical Teratoid/Rhabdoid Tumors (ATRT) in Adults Display DNA Methylation Profiles of the ATRT-MYC Subgroup. > print |
| 001 | 132820 | ||
| 005 | 20240229105034.0 | ||
| 024 | 7 | _ | |a 10.1097/PAS.0000000000001023 |2 doi |
| 024 | 7 | _ | |a pmid:29324471 |2 pmid |
| 024 | 7 | _ | |a 0147-5185 |2 ISSN |
| 024 | 7 | _ | |a 1532-0979 |2 ISSN |
| 024 | 7 | _ | |a altmetric:31624389 |2 altmetric |
| 037 | _ | _ | |a DKFZ-2018-00464 |
| 041 | _ | _ | |a eng |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Johann, Pascal |0 P:(DE-He78)3fdc3623477264cb5d0e14f256dbfbb8 |b 0 |e First author |
| 245 | _ | _ | |a Sellar Region Atypical Teratoid/Rhabdoid Tumors (ATRT) in Adults Display DNA Methylation Profiles of the ATRT-MYC Subgroup. |
| 260 | _ | _ | |a Philadelphia, Pa. |c 2018 |b Lippincott Williams & Wilkins |
| 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 1659952658_8496 |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 Atypical teratoid/rhabdoid tumor (ATRT) is a highly malignant brain tumor predominantly encountered in infants. Mutations of the SMARCB1 gene are the characteristic genetic lesion. A small group of ATRT stands out clinically, because these tumors are located in the sellar region of adults. To investigate if sellar region ATRT in adults represents a molecular distinct entity, we characterized molecular alterations in 7 sellar region ATRTs in adults as compared with 150 pediatric ATRTs and 47 pituitary adenomas using SMARCB1 sequencing, multiplex ligation-dependent probe amplification and fluorescence in situ hybridization as well as DNA methylation profiling. The median age of the 6 female and 1 male patients was 56 years. On histopathologic examination, all tumors were malignant rhabdoid tumors showing loss of SMARCB1/INI1 protein expression. Two cases displayed compound heterozygous SMARCB1 point mutations, 3 cases showed heterozygous SMARCB1 deletions with point mutations of the other allele and 1 case a homozygous SMARCB1 deletion; in 1 case, underlying SMARCB1 alterations could not be identified. On unsupervised hierarchical cluster analysis of DNA methylation profiles, sellar region ATRTs did not form a distinct group, but clustered with ATRT-MYC, 1 of 3 recently described molecular subgroups of ATRT. On analysis of DNA methylation array intensity data, only 1 sellar region ATRT showed characteristic features of pediatric ATRT-MYC, that is, major copy number losses affecting the SMARCB1 region. In conclusion, these results suggest that sellar region ATRTs in adults form a clinically distinct entity with a different mutational spectrum, but epigenetic similarities with pediatric ATRTs of the ATRT-MYC subgroup. |
| 536 | _ | _ | |a 312 - Functional and structural genomics (POF3-312) |0 G:(DE-HGF)POF3-312 |c POF3-312 |f POF III |x 0 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, |
| 700 | 1 | _ | |a Bens, Susanne |b 1 |
| 700 | 1 | _ | |a Oyen, Florian |b 2 |
| 700 | 1 | _ | |a Wagener, Rabea |b 3 |
| 700 | 1 | _ | |a Giannini, Caterina |b 4 |
| 700 | 1 | _ | |a Perry, Arie |b 5 |
| 700 | 1 | _ | |a Raisanen, Jack M |b 6 |
| 700 | 1 | _ | |a Reis, Gerald F |b 7 |
| 700 | 1 | _ | |a Nobusawa, Sumihito |b 8 |
| 700 | 1 | _ | |a Arita, Kazunori |b 9 |
| 700 | 1 | _ | |a Felsberg, Jörg |b 10 |
| 700 | 1 | _ | |a Reifenberger, Guido |0 P:(DE-HGF)0 |b 11 |
| 700 | 1 | _ | |a Agaimy, Abbas |b 12 |
| 700 | 1 | _ | |a Buslei, Rolf |b 13 |
| 700 | 1 | _ | |a Capper, David |b 14 |
| 700 | 1 | _ | |a Pfister, Stefan |0 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9 |b 15 |
| 700 | 1 | _ | |a Schneppenheim, Reinhard |b 16 |
| 700 | 1 | _ | |a Siebert, Reiner |b 17 |
| 700 | 1 | _ | |a Frühwald, Michael C |b 18 |
| 700 | 1 | _ | |a Paulus, Werner |b 19 |
| 700 | 1 | _ | |a Kool, Marcel |0 P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8 |b 20 |
| 700 | 1 | _ | |a Hasselblatt, Martin |b 21 |
| 773 | _ | _ | |a 10.1097/PAS.0000000000001023 |g Vol. 42, no. 4, p. 506 - 511 |0 PERI:(DE-600)2029143-7 |n 4 |p 506 - 511 |t The @American journal of surgical pathology |v 42 |y 2018 |x 0147-5185 |
| 909 | C | O | |p VDB |o oai:inrepo02.dkfz.de:132820 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 0 |6 P:(DE-He78)3fdc3623477264cb5d0e14f256dbfbb8 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 11 |6 P:(DE-HGF)0 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 15 |6 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 20 |6 P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8 |
| 913 | 1 | _ | |a DE-HGF |b Gesundheit |l Krebsforschung |1 G:(DE-HGF)POF3-310 |0 G:(DE-HGF)POF3-312 |3 G:(DE-HGF)POF3 |2 G:(DE-HGF)POF3-300 |4 G:(DE-HGF)POF |v Functional and structural genomics |x 0 |
| 914 | 1 | _ | |y 2018 |
| 915 | _ | _ | |a Allianz-Lizenz |0 StatID:(DE-HGF)0410 |2 StatID |
| 915 | _ | _ | |a Nationallizenz |0 StatID:(DE-HGF)0420 |2 StatID |
| 915 | _ | _ | |a JCR |0 StatID:(DE-HGF)0100 |2 StatID |b AM J SURG PATHOL : 2015 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0200 |2 StatID |b SCOPUS |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0300 |2 StatID |b Medline |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0310 |2 StatID |b NCBI Molecular Biology Database |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0199 |2 StatID |b Thomson Reuters Master Journal List |
| 915 | _ | _ | |a WoS |0 StatID:(DE-HGF)0110 |2 StatID |b Science Citation Index |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0150 |2 StatID |b Web of Science Core Collection |
| 915 | _ | _ | |a WoS |0 StatID:(DE-HGF)0111 |2 StatID |b Science Citation Index Expanded |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1110 |2 StatID |b Current Contents - Clinical Medicine |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1030 |2 StatID |b Current Contents - Life Sciences |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1050 |2 StatID |b BIOSIS Previews |
| 915 | _ | _ | |a IF < 5 |0 StatID:(DE-HGF)9900 |2 StatID |
| 920 | 1 | _ | |0 I:(DE-He78)B062-20160331 |k B062 |l B062 Pädiatrische Neuroonkologie |x 0 |
| 920 | 1 | _ | |0 I:(DE-He78)L101-20160331 |k L101 |l DKTK Heidelberg |x 1 |
| 920 | 1 | _ | |0 I:(DE-He78)L401-20160331 |k L401 |l DKTK Essen |x 2 |
| 980 | _ | _ | |a journal |
| 980 | _ | _ | |a VDB |
| 980 | _ | _ | |a I:(DE-He78)B062-20160331 |
| 980 | _ | _ | |a I:(DE-He78)L101-20160331 |
| 980 | _ | _ | |a I:(DE-He78)L401-20160331 |
| 980 | _ | _ | |a UNRESTRICTED |
| Library | Collection | CLSMajor | CLSMinor | Language | Author |
|---|