000127673 001__ 127673 000127673 005__ 20240228135031.0 000127673 0247_ $$2doi$$a10.1007/s00401-013-1228-0 000127673 0247_ $$2pmid$$apmid:24337497 000127673 0247_ $$2pmc$$apmc:PMC4102829 000127673 0247_ $$2ISSN$$a0001-6322 000127673 0247_ $$2ISSN$$a1432-0533 000127673 0247_ $$2altmetric$$aaltmetric:2465104 000127673 037__ $$aDKFZ-2017-03696 000127673 041__ $$aeng 000127673 082__ $$a610 000127673 1001_ $$0P:(DE-He78)8d9c904a6cea14d4c99c78ba46e41f93$$aKorshunov, Andrey$$b0$$eFirst author$$udkfz 000127673 245__ $$aEmbryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity. 000127673 260__ $$aBerlin$$bSpringer$$c2014 000127673 3367_ $$2DRIVER$$aarticle 000127673 3367_ $$2DataCite$$aOutput Types/Journal article 000127673 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1506589856_13889 000127673 3367_ $$2BibTeX$$aARTICLE 000127673 3367_ $$2ORCID$$aJOURNAL_ARTICLE 000127673 3367_ $$00$$2EndNote$$aJournal Article 000127673 520__ $$aThree histological variants are known within the family of embryonal rosette-forming neuroepithelial brain tumors. These include embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma (EBL), and medulloepithelioma (MEPL). In this study, we performed a comprehensive clinical, pathological, and molecular analysis of 97 cases of these rare brain neoplasms, including genome-wide DNA methylation and copy number profiling of 41 tumors. We identified uniform molecular signatures in all tumors irrespective of histological patterns, indicating that ETANTR, EBL, and MEPL comprise a single biological entity. As such, future WHO classification schemes should consider lumping these variants into a single diagnostic category, such as embryonal tumor with multilayered rosettes (ETMR). We recommend combined LIN28A immunohistochemistry and FISH analysis of the 19q13.42 locus for molecular diagnosis of this tumor category. Recognition of this distinct pediatric brain tumor entity based on the fact that the three histological variants are molecularly and clinically uniform will help to distinguish ETMR from other embryonal CNS tumors and to better understand the biology of these highly aggressive and therapy-resistant pediatric CNS malignancies, possibly leading to alternate treatment strategies. 000127673 536__ $$0G:(DE-HGF)POF3-312$$a312 - Functional and structural genomics (POF3-312)$$cPOF3-312$$fPOF III$$x0 000127673 588__ $$aDataset connected to CrossRef, PubMed, 000127673 7001_ $$0P:(DE-He78)a46a5b2a871859c8e2d63d2f8c666807$$aSturm, Dominik$$b1$$udkfz 000127673 7001_ $$aRyzhova, Marina$$b2 000127673 7001_ $$0P:(DE-He78)744146d3b5a3df1e0ac555e5bf1ee5cc$$aHovestadt, Volker$$b3$$udkfz 000127673 7001_ $$aGessi, Marco$$b4 000127673 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David$$b5$$udkfz 000127673 7001_ $$0P:(DE-HGF)0$$aRemke, Marc$$b6 000127673 7001_ $$0P:(DE-HGF)0$$aNorthcott, Paul$$b7 000127673 7001_ $$aPerry, Arie$$b8 000127673 7001_ $$aPicard, Daniel$$b9 000127673 7001_ $$aRosenblum, Marc$$b10 000127673 7001_ $$aAntonelli, Manila$$b11 000127673 7001_ $$aAronica, Eleonora$$b12 000127673 7001_ $$aSchüller, Ulrich$$b13 000127673 7001_ $$aHasselblatt, Martin$$b14 000127673 7001_ $$aWoehrer, Adelheid$$b15 000127673 7001_ $$aZheludkova, Olga$$b16 000127673 7001_ $$aKumirova, Ella$$b17 000127673 7001_ $$aPuget, Stephanie$$b18 000127673 7001_ $$aTaylor, Michael D$$b19 000127673 7001_ $$aGiangaspero, Felice$$b20 000127673 7001_ $$aPeter Collins, V.$$b21 000127673 7001_ $$0P:(DE-He78)a8a10626a848d31e70cfd96a133cc144$$avon Deimling, Andreas$$b22$$udkfz 000127673 7001_ $$0P:(DE-He78)e13b4363c5fe858044ef8a39c02c870c$$aLichter, Peter$$b23$$udkfz 000127673 7001_ $$aHuang, Annie$$b24 000127673 7001_ $$aPietsch, Torsten$$b25 000127673 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b26$$udkfz 000127673 7001_ $$0P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aKool, Marcel$$b27$$eLast author$$udkfz 000127673 773__ $$0PERI:(DE-600)1458410-4$$a10.1007/s00401-013-1228-0$$gVol. 128, no. 2, p. 279 - 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