Genome-Wide Profiles of Extra-cranial Malignant Rhabdoid Tumors Reveal Heterogeneity and Dysregulated Developmental Pathways

Hye Jung E. Chun, Emilia L. Lim, Alireza Heravi-Moussavi, Saeed Saberi, Karen L. Mungall, Mikhail Bilenky, Annaick Carles, Kane Tse, Inna Shlafman, Kelsey Zhu, Jenny Q. Qian, Diana L. Palmquist, An He, William Long, Rodrigo Goya, Michelle Ng, Veronique G. LeBlanc, Erin Pleasance, Nina Thiessen, Tina WongEric Chuah, Yong Jun Zhao, Jacquie E. Schein, Daniela S. Gerhard, Michael D. Taylor, Andrew J. Mungall, Richard A. Moore, Yussanne Ma, Steven J.M. Jones, Elizabeth J. Perlman, Martin Hirst, Marco A. Marra*

*Corresponding author for this work

Research output: Contribution to journalArticle

56 Scopus citations

Abstract

Malignant rhabdoid tumors (MRTs) are rare lethal tumors of childhood that most commonly occur in the kidney and brain. MRTs are driven by SMARCB1 loss, but the molecular consequences of SMARCB1 loss in extra-cranial tumors have not been comprehensively described and genomic resources for analyses of extra-cranial MRT are limited. To provide such data, we used whole-genome sequencing, whole-genome bisulfite sequencing, whole transcriptome (RNA-seq) and microRNA sequencing (miRNA-seq), and histone modification profiling to characterize extra-cranial MRTs. Our analyses revealed gene expression and methylation subgroups and focused on dysregulated pathways, including those involved in neural crest development.

Original languageEnglish (US)
Pages (from-to)394-406
Number of pages13
JournalCancer Cell
Volume29
Issue number3
DOIs
StatePublished - Mar 14 2016

ASJC Scopus subject areas

  • Oncology
  • Cell Biology
  • Cancer Research

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    Chun, H. J. E., Lim, E. L., Heravi-Moussavi, A., Saberi, S., Mungall, K. L., Bilenky, M., Carles, A., Tse, K., Shlafman, I., Zhu, K., Qian, J. Q., Palmquist, D. L., He, A., Long, W., Goya, R., Ng, M., LeBlanc, V. G., Pleasance, E., Thiessen, N., ... Marra, M. A. (2016). Genome-Wide Profiles of Extra-cranial Malignant Rhabdoid Tumors Reveal Heterogeneity and Dysregulated Developmental Pathways. Cancer Cell, 29(3), 394-406. https://doi.org/10.1016/j.ccell.2016.02.009