000147225 001__ 147225
000147225 005__ 20240229112643.0
000147225 0247_ $$2doi$$a10.1093/jnen/nlz083
000147225 0247_ $$2pmid$$apmid:31553442
000147225 0247_ $$2ISSN$$a0022-3069
000147225 0247_ $$2ISSN$$a1554-6578
000147225 0247_ $$2altmetric$$aaltmetric:67160394
000147225 037__ $$aDKFZ-2019-02351
000147225 041__ $$aeng
000147225 082__ $$a610
000147225 1001_ $$aJour, George$$b0
000147225 245__ $$aPrimary CNS Alveolar Rhabdomyosarcoma: Importance of Epigenetic and Transcriptomic Assays for Accurate Diagnosis.
000147225 260__ $$aPhiladelphia, Pa. [u.a.]$$bLippincott Williams & Wilkins$$c2019
000147225 3367_ $$2DRIVER$$aarticle
000147225 3367_ $$2DataCite$$aOutput Types/Journal article
000147225 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1577095152_15304
000147225 3367_ $$2BibTeX$$aARTICLE
000147225 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000147225 3367_ $$00$$2EndNote$$aJournal Article
000147225 520__ $$aWe present the case of a 22-year-old woman who developed increasing headaches, nausea, and vomiting. Imaging identified a 3 × 3 cm heterogeneously enhancing cystic mass in the posterior III ventricular/pineal region. Pathology review of the initial lesion revealed a highly malignant spindle cell neoplasm composed of round to mostly oval elongated cells with relatively small amounts of cytoplasm arranged in sheets and fascicles with focal storiform pattern. Whole genome methylation analysis through unsupervised clustering with data generated from other primary intracranial tumors and peripheral sarcomas was performed at the German Cancer Research Center (DKFZ) and classified the tumor with the group of alveolar rhabdomyosarcomas (ARMS). Further RNA sequencing revealed an in frame PAX3 (EX 7)-NCOA2 (EX12) fusion confirming the diagnosis. This is the first evidence of occurrence of PAX3-NCOA2 in primary CNS ARMS.
000147225 536__ $$0G:(DE-HGF)POF3-312$$a312 - Functional and structural genomics (POF3-312)$$cPOF3-312$$fPOF III$$x0
000147225 588__ $$aDataset connected to CrossRef, PubMed,
000147225 7001_ $$aSerrano, Jonathan$$b1
000147225 7001_ $$aKoelsche, Christian$$b2
000147225 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David T W$$b3$$udkfz
000147225 7001_ $$avon Deimling, Andreas$$b4
000147225 7001_ $$aAllen, Jeffrey$$b5
000147225 7001_ $$aSnuderl, Matija$$b6
000147225 773__ $$0PERI:(DE-600)2033048-0$$a10.1093/jnen/nlz083$$gVol. 78, no. 11, p. 1073 - 1075$$n11$$p1073 - 1075$$tJournal of neuropathology and experimental neurology$$v78$$x1554-6578$$y2019
000147225 909CO $$ooai:inrepo02.dkfz.de:147225$$pVDB
000147225 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)551bb92841f634070997aa168d818492$$aDeutsches Krebsforschungszentrum$$b3$$kDKFZ
000147225 9131_ $$0G:(DE-HGF)POF3-312$$1G:(DE-HGF)POF3-310$$2G:(DE-HGF)POF3-300$$3G:(DE-HGF)POF3$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lKrebsforschung$$vFunctional and structural genomics$$x0
000147225 9141_ $$y2019
000147225 915__ $$0StatID:(DE-HGF)0410$$2StatID$$aAllianz-Lizenz
000147225 915__ $$0StatID:(DE-HGF)0420$$2StatID$$aNationallizenz
000147225 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bJ NEUROPATH EXP NEUR : 2017
000147225 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS
000147225 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline
000147225 915__ $$0StatID:(DE-HGF)0310$$2StatID$$aDBCoverage$$bNCBI Molecular Biology Database
000147225 915__ $$0StatID:(DE-HGF)0320$$2StatID$$aDBCoverage$$bPubMed Central
000147225 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List
000147225 915__ $$0StatID:(DE-HGF)0110$$2StatID$$aWoS$$bScience Citation Index
000147225 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection
000147225 915__ $$0StatID:(DE-HGF)0111$$2StatID$$aWoS$$bScience Citation Index Expanded
000147225 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences
000147225 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews
000147225 915__ $$0StatID:(DE-HGF)9900$$2StatID$$aIF < 5
000147225 9201_ $$0I:(DE-He78)B360-20160331$$kB360$$lPediatric Glioma$$x0
000147225 9201_ $$0I:(DE-He78)L101-20160331$$kL101$$lDKTK Heidelberg$$x1
000147225 980__ $$ajournal
000147225 980__ $$aVDB
000147225 980__ $$aI:(DE-He78)B360-20160331
000147225 980__ $$aI:(DE-He78)L101-20160331
000147225 980__ $$aUNRESTRICTED