Identification and Analyses of Extra-Cranial and Cranial Rhabdoid Tumor Molecular Subgroups Reveal Tumors with Cytotoxic T Cell Infiltration

被引：80

作者：

Chun, Hye-Jung E. ^{[1
]}

Johann, Pascal D. ^{[2
,3
,4
,5
]}

Milne, Katy ^{[6
]}

Zapatka, Marc ^{[7
]}

Buellesbach, Annette ^{[2
,3
,4
,5
]}

Ishaque, Naveed ^{[8
,9
,10
]}

Iskar, Murat ^{[7
]}

Erkek, Serap ^{[2
]}

Wei, Lisa ^{[1
]}

Tessier-Cloutier, Basile ^{[11
]}

Lever, Jake ^{[1
]}

Titmuss, Emma ^{[1
]}

Topham, James T. ^{[1
]}

Bowlby, Reanne ^{[1
]}

Chuah, Eric ^{[1
]}

Mungall, Karen L. ^{[1
]}

Ma, Yussanne ^{[1
]}

Mungall, Andrew J. ^{[1
]}

Moore, Richard A. ^{[1
]}

Taylor, Michael D. ^{[12
]}

Gerhard, Daniela S. ^{[13
]}

Jones, Steven J. M. ^{[1
,14
]}

Korshunov, Andrey ^{[2
]}

Gessler, Manfred ^{[15
,16
]}

Kerl, Kornelius ^{[17
]}

Hasselblatt, Martin ^{[18
]}

Fruehwald, Michael C. ^{[19
]}

Perlman, Elizabeth J. ^{[20
,21
]}

Nelson, Brad H. ^{[6
,14
,22
]}

Pfister, Stefan M. ^{[2
,3
,4
,5
]}

Marra, Marco A. ^{[1
,14
]}

Kool, Marcel ^{[2
,3
,4
]}

机构：

[1] BC Canc, Canadas Michael Smith Genome Sci Ctr, Vancouver, BC V7Z 1L3, Canada

[2] Hopp Childrens Canc Ctr, D-69120 Heidelberg, Germany

[3] German Canc Res Ctr, Div Pediat Neurooncol, D-69120 Heidelberg, Germany

[4] German Canc Consortium DKTK, Core Ctr Heidelberg, D-69120 Heidelberg, Germany

[5] Univ Hosp Heidelberg, Dept Pediat Hematol & Oncol, D-69120 Heidelberg, Germany

[6] BC Canc, Deeley Res Ctr, Victoria, BC V8R 6V5, Canada

[7] DKFZ, Dept Mol Genet, D-69120 Heidelberg, Germany

[8] Berlin Inst Hlth, Ctr Digital Hlth, D-10117 Berlin, Germany

[9] Charite Univ Med Berlin, D-10117 Berlin, Germany

[10] DKFZ, Heidelberg Ctr Personalized Oncol, D-69120 Heidelberg, Germany

[11] Univ British Columbia, Dept Pathol & Lab Med, Vancouver, BC V6H 3N1, Canada

[12] Hosp Sick Children, Arthur & Sonia Labatt Brain Tumour Res Ctr, Toronto, ON M5G 1X8, Canada

[13] NCI, Off Canc Genom, NIH, Bethesda, MD 20892 USA

[14] Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada

[15] Univ Wurzburg, Dev Biochem, Theodor Boveri Inst, Bioctr, D-97074 Wurzburg, Germany

[16] Univ Wurzburg, Comprehens Canc Ctr Mainfranken, D-97074 Wurzburg, Germany

[17] Univ Childrens Hosp Muenster, Dept Pediat Hematol & Oncol, D-48149 Munster, Germany

[18] Univ Hosp Muenster, Inst Neuropathol, D-48149 Munster, Germany

[19] Univ Childrens Hosp Augsburg, Swabian Childrens Canc Ctr, D-86156 Augsburg, Germany

[20] Northwestern Univ, Lurie Childrens Hosp, Dept Pathol & Lab Med, Feinberg Sch Med, Chicago, IL 60611 USA

[21] Robert H Lurie Canc Ctr, Chicago, IL 60611 USA

[22] Univ Victoria, Dept Biochem & Microbiol, Victoria, BC V8P 3E6, Canada

来源：

CELL REPORTS | 2019年 / 29卷 / 08期

基金：

美国国家卫生研究院; 加拿大健康研究院;

关键词：

ATYPICAL TERATOID/RHABDOID TUMORS; MIGRATION INHIBITORY FACTOR; CENTRAL-NERVOUS-SYSTEM; INTEGRATIVE ANALYSIS; READ ALIGNMENT; IMMUNE CELLS; GENE LISTS; CANCER; TARGET; MACROPHAGE;

D O I：

10.1016/j.celrep.2019.10.013

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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

页码：2338 / +

页数：24

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