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100 1 _ |a Chun, Hye-Jung E
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245 _ _ |a Identification and Analyses of Extra-Cranial and Cranial Rhabdoid Tumor Molecular Subgroups Reveal Tumors with Cytotoxic T Cell Infiltration.
260 _ _ |a [New York, NY]
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500 _ _ |a 29(8):2338-2354.e7
520 _ _ |a Extra-cranial malignant rhabdoid tumors (MRTs) and cranial atypical teratoid RTs (ATRTs) are heterogeneous pediatric cancers driven primarily by SMARCB1 loss. To understand the genome-wide molecular relationships between MRTs and ATRTs, we analyze multi-omics data from 140 MRTs and 161 ATRTs. We detect similarities between the MYC subgroup of ATRTs (ATRT-MYC) and extra-cranial MRTs, including global DNA hypomethylation and overexpression of HOX genes and genes involved in mesenchymal development, distinguishing them from other ATRT subgroups that express neural-like features. We identify five DNA methylation subgroups associated with anatomical sites and SMARCB1 mutation patterns. Groups 1, 3, and 4 exhibit cytotoxic T cell infiltration and expression of immune checkpoint regulators, consistent with a potential role for immunotherapy in rhabdoid tumor patients.
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700 1 _ |a Milne, Katy
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700 1 _ |a Zapatka, Marc
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700 1 _ |a Buellesbach, Annette
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700 1 _ |a Ishaque, Naveed
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700 1 _ |a Iskar, Murat
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700 1 _ |a Erkek, Serap
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700 1 _ |a Wei, Lisa
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700 1 _ |a Tessier-Cloutier, Basile
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700 1 _ |a Lever, Jake
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700 1 _ |a Titmuss, Emma
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700 1 _ |a Topham, James T
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700 1 _ |a Bowlby, Reanne
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700 1 _ |a Chuah, Eric
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700 1 _ |a Mungall, Karen L
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700 1 _ |a Ma, Yussanne
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700 1 _ |a Mungall, Andrew J
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700 1 _ |a Moore, Richard A
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700 1 _ |a Taylor, Michael D
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700 1 _ |a Gerhard, Daniela S
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700 1 _ |a Jones, Steven J M
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700 1 _ |a Korshunov, Andrey
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700 1 _ |a Gessler, Manfred
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700 1 _ |a Kerl, Kornelius
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700 1 _ |a Hasselblatt, Martin
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700 1 _ |a Frühwald, Michael C
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700 1 _ |a Perlman, Elizabeth J
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700 1 _ |a Nelson, Brad H
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700 1 _ |a Pfister, Stefan M
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700 1 _ |a Marra, Marco A
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700 1 _ |a Kool, Marcel
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Marc 21