作者
Hye-Jung E Chun, Pascal D Johann, Katy Milne, Marc Zapatka, Annette Buellesbach, Naveed Ishaque, Murat Iskar, Serap Erkek, Lisa Wei, Basile Tessier-Cloutier, Jake Lever, Emma Titmuss, James T Topham, Reanne Bowlby, Eric Chuah, Karen L Mungall, Yussanne Ma, Andrew J Mungall, Richard A Moore, Michael D Taylor, Daniela S Gerhard, Steven JM Jones, Andrey Korshunov, Manfred Gessler, Kornelius Kerl, Martin Hasselblatt, Michael C Frühwald, Elizabeth J Perlman, Brad H Nelson, Stefan M Pfister, Marco A Marra, Marcel Kool
发表日期
2019/11/19
期刊
Cell reports
卷号
29
期号
8
页码范围
2338-2354. e7
出版商
Elsevier
简介
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.
引用总数
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