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000148853 0247_ $$2doi$$a10.1093/neuonc/noz235
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000148853 037__ $$aDKFZ-2020-00045
000148853 041__ $$aeng
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000148853 1001_ $$aHo, Ben$$b0
000148853 245__ $$aMolecular subgrouping of Atypical Teratoid / Rhabdoid Tumors (ATRT) - a reinvestigation and current consensus.
000148853 260__ $$aOxford$$bOxford Univ. Press$$c2020
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000148853 500__ $$a2020 May 15;22(5):613-624#LA:B062#
000148853 520__ $$aAtypical Teratoid / Rhabdoid Tumors (ATRT) are known to exhibit molecular and clinical heterogeneity even though SMARCB1 inactivation is the sole recurrent genetic event present in nearly all cases. Indeed, recent studies demonstrated three molecular subgroups of ATRTs that are genetically, epigenetically and clinically distinct. As these studies included different numbers of tumors, various subgrouping techniques and naming, an international working group sought to align previous findings and to reach a consensus on nomenclature and clinic-pathologic significance of ATRT subgroups.We integrated various methods to perform a meta-analysis on published and unpublished DNA methylation and gene expression datasets of ATRTs and associated clinico-pathological data.In concordance with previous studies, the analyses identified three main molecular subgroups of ATRTs, for which a consensus was reached to name them ATRT-TYR, ATRT-SHH, and ATRT-MYC. The ATRT-SHH subgroup exhibited further heterogeneity segregating further into two subtypes associated with a predominant supratentorial (ATRT-SHH-1) or infratentorial location (ATRT-SHH-2). For each ATRT subgroup we provide an overview on its main molecular and clinical characteristics, including SMARCB1 alterations and pathway activation.The introduction of a common classification, characterization and nomenclature of ATRT subgroups will facilitate future research and serve as a common ground for subgrouping patient samples and ATRT models, which will aid in refining subgroup-based therapies for ATRT patients.
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000148853 7001_ $$0P:(DE-He78)3fdc3623477264cb5d0e14f256dbfbb8$$aJohann, Pascal D$$b1$$udkfz
000148853 7001_ $$aGrabovska, Yura$$b2
000148853 7001_ $$aAndrianteranagna, Mamy Jean De Dieu$$b3
000148853 7001_ $$aYao, Fu Pan$$b4
000148853 7001_ $$aFrühwald, Michael$$b5
000148853 7001_ $$aHasselblatt, Martin$$b6
000148853 7001_ $$aBourdeaut, Franck$$b7
000148853 7001_ $$aWilliamson, Daniel$$b8
000148853 7001_ $$aHuang, Annie$$b9
000148853 7001_ $$0P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aKool, Marcel$$b10$$eLast author$$udkfz
000148853 773__ $$0PERI:(DE-600)2094060-9$$a10.1093/neuonc/noz235$$gp. noz235$$n5$$p613-624$$tNeuro-Oncology$$v22$$x1523-5866$$y2020
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