000136999 001__ 136999
000136999 005__ 20240229105109.0
000136999 0247_ $$2doi$$a10.1038/s41379-018-0045-3
000136999 0247_ $$2pmid$$apmid:29572501
000136999 0247_ $$2ISSN$$a0893-3952
000136999 0247_ $$2ISSN$$a1530-0285
000136999 0247_ $$2altmetric$$aaltmetric:34776338
000136999 037__ $$aDKFZ-2018-01427
000136999 041__ $$aeng
000136999 082__ $$a610
000136999 1001_ $$00000-0001-8763-8864$$aKoelsche, Christian$$b0$$eFirst author
000136999 245__ $$aArray-based DNA-methylation profiling in sarcomas with small blue round cell histology provides valuable diagnostic information.
000136999 260__ $$aLondon$$bNature Publishing Group$$c2018
000136999 3367_ $$2DRIVER$$aarticle
000136999 3367_ $$2DataCite$$aOutput Types/Journal article
000136999 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1659960661_8495
000136999 3367_ $$2BibTeX$$aARTICLE
000136999 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000136999 3367_ $$00$$2EndNote$$aJournal Article
000136999 520__ $$aUndifferentiated solid tumors with small blue round cell histology and expression of CD99 mostly resemble Ewing sarcoma. However, they also may include other tumors such as mesenchymal chondrosarcoma, synovial sarcoma, or small cell osteosarcoma. Definitive classification usually requires detection of entity-specific mutations. While this approach identifies the majority of Ewing sarcomas, a subset of lesions remains unclassified and, therefore, has been termed 'Ewing-like sarcomas' or small blue round cell tumors not otherwise specified. We developed an approach for further characterization of small blue round cell tumors not otherwise specified using an array-based DNA-methylation profiling approach. Data were analyzed by unsupervised clustering and t-distributed stochastic neighbor embedding analysis and compared with a reference methylation data set of 460 well-characterized prototypical sarcomas encompassing 18 subtypes. Verification was performed by additional FISH analyses, RNA sequencing from formalin-fixed paraffin-embedded material or immunohistochemical marker analyses. In a cohort of more than 1,000 tumors assumed to represent Ewing sarcomas, 30 failed to exhibit the typical EWS translocation. These tumors were subjected to methylation profiling and could be assigned to Ewing sarcoma in 14 (47%), to small blue round cell tumors with CIC alteration in 6 (20%), to small blue round cell tumors with BCOR alteration in 4 (13%), to synovial sarcoma and to malignant rhabdoid tumor in 2 cases each. One single case each was allotted to mesenchymal chondrosarcoma and adamantinoma. 12/14 tumors classified as Ewing sarcoma could be verified by demonstrating either a canonical EWS translocation evading initial testing, by identifying rare breakpoints or fusion partners. The methylation-based assignment of the remaining small blue round cell tumors not otherwise specified also could be verified by entity-specific molecular alterations in 13/16 cases. In conclusion, array-based DNA-methylation analysis of undifferentiated tumors with small blue round cell histology is a powerful tool for precisely classifying this diagnostically challenging tumor group.
000136999 536__ $$0G:(DE-HGF)POF3-317$$a317 - Translational cancer research (POF3-317)$$cPOF3-317$$fPOF III$$x0
000136999 588__ $$aDataset connected to CrossRef, PubMed,
000136999 7001_ $$aHartmann, Wolfgang$$b1
000136999 7001_ $$0P:(DE-He78)e54a1e0999c1d8c95869ef9188b794cc$$aSchrimpf, Daniel$$b2$$udkfz
000136999 7001_ $$0P:(DE-He78)d20d08adc992abdb6ccffa1686f1ba17$$aStichel, Damian$$b3$$udkfz
000136999 7001_ $$aJabar, Susanne$$b4
000136999 7001_ $$aRanft, Andreas$$b5
000136999 7001_ $$0P:(DE-HGF)0$$aReuss, David E$$b6
000136999 7001_ $$0P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88$$aSahm, Felix$$b7$$udkfz
000136999 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David$$b8$$udkfz
000136999 7001_ $$0P:(DE-He78)7999346780553d7fab7ba69d5afdfa71$$aBewerunge-Hudler, Melanie$$b9$$udkfz
000136999 7001_ $$00000-0002-5842-1196$$aTrautmann, Marcel$$b10
000136999 7001_ $$aKlingebiel, Thomas$$b11
000136999 7001_ $$aVokuhl, Christian$$b12
000136999 7001_ $$00000-0002-7915-6045$$aGessler, Manfred$$b13
000136999 7001_ $$aWardelmann, Eva$$b14
000136999 7001_ $$aPetersen, Iver$$b15
000136999 7001_ $$aBaumhoer, Daniel$$b16
000136999 7001_ $$aFlucke, Uta$$b17
000136999 7001_ $$aAntonescu, Cristina$$b18
000136999 7001_ $$aEsteller, Manel$$b19
000136999 7001_ $$0P:(DE-He78)f0144d171d26dbedb67c9db1df35629d$$aFröhling, Stefan$$b20$$udkfz
000136999 7001_ $$0P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aKool, Marcel$$b21$$udkfz
000136999 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b22$$udkfz
000136999 7001_ $$aMechtersheimer, Gunhild$$b23
000136999 7001_ $$aDirksen, Uta$$b24
000136999 7001_ $$0P:(DE-He78)a8a10626a848d31e70cfd96a133cc144$$avon Deimling, Andreas$$b25$$eLast author$$udkfz
000136999 773__ $$0PERI:(DE-600)2041318-X$$a10.1038/s41379-018-0045-3$$gVol. 31, no. 8, p. 1246 - 1256$$n8$$p1246 - 1256$$tModern pathology$$v31$$x1530-0285$$y2018
000136999 909CO $$ooai:inrepo02.dkfz.de:136999$$pVDB
000136999 9101_ $$0I:(DE-588b)2036810-0$$60000-0001-8763-8864$$aDeutsches Krebsforschungszentrum$$b0$$kDKFZ
000136999 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)e54a1e0999c1d8c95869ef9188b794cc$$aDeutsches Krebsforschungszentrum$$b2$$kDKFZ
000136999 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)d20d08adc992abdb6ccffa1686f1ba17$$aDeutsches Krebsforschungszentrum$$b3$$kDKFZ
000136999 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-HGF)0$$aDeutsches Krebsforschungszentrum$$b6$$kDKFZ
000136999 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88$$aDeutsches Krebsforschungszentrum$$b7$$kDKFZ
000136999 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)551bb92841f634070997aa168d818492$$aDeutsches Krebsforschungszentrum$$b8$$kDKFZ
000136999 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)7999346780553d7fab7ba69d5afdfa71$$aDeutsches Krebsforschungszentrum$$b9$$kDKFZ
000136999 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)f0144d171d26dbedb67c9db1df35629d$$aDeutsches Krebsforschungszentrum$$b20$$kDKFZ
000136999 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aDeutsches Krebsforschungszentrum$$b21$$kDKFZ
000136999 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aDeutsches Krebsforschungszentrum$$b22$$kDKFZ
000136999 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)a8a10626a848d31e70cfd96a133cc144$$aDeutsches Krebsforschungszentrum$$b25$$kDKFZ
000136999 9131_ $$0G:(DE-HGF)POF3-317$$1G:(DE-HGF)POF3-310$$2G:(DE-HGF)POF3-300$$3G:(DE-HGF)POF3$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lKrebsforschung$$vTranslational cancer research$$x0
000136999 9141_ $$y2018
000136999 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bMODERN PATHOL : 2015
000136999 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS
000136999 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline
000136999 915__ $$0StatID:(DE-HGF)0310$$2StatID$$aDBCoverage$$bNCBI Molecular Biology Database
000136999 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bThomson Reuters Master Journal List
000136999 915__ $$0StatID:(DE-HGF)0110$$2StatID$$aWoS$$bScience Citation Index
000136999 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection
000136999 915__ $$0StatID:(DE-HGF)0111$$2StatID$$aWoS$$bScience Citation Index Expanded
000136999 915__ $$0StatID:(DE-HGF)1110$$2StatID$$aDBCoverage$$bCurrent Contents - Clinical Medicine
000136999 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences
000136999 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews
000136999 915__ $$0StatID:(DE-HGF)9905$$2StatID$$aIF >= 5$$bMODERN PATHOL : 2015
000136999 9201_ $$0I:(DE-He78)G380-20160331$$kG380$$lKKE Neuropathologie$$x0
000136999 9201_ $$0I:(DE-He78)B062-20160331$$kB062$$lB062 Pädiatrische Neuroonkologie$$x1
000136999 9201_ $$0I:(DE-He78)W110-20160331$$kW110$$lBewerunge-Hudler$$x2
000136999 9201_ $$0I:(DE-He78)G100-20160331$$kG100$$lTranslationale Onkologie$$x3
000136999 980__ $$ajournal
000136999 980__ $$aVDB
000136999 980__ $$aI:(DE-He78)G380-20160331
000136999 980__ $$aI:(DE-He78)B062-20160331
000136999 980__ $$aI:(DE-He78)W110-20160331
000136999 980__ $$aI:(DE-He78)G100-20160331
000136999 980__ $$aUNRESTRICTED