Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC V5Z 1L3, Canada.
Department of Microbiology and Immunology, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.
Cancer Cell. 2016 Mar 14;29(3):394-406. doi: 10.1016/j.ccell.2016.02.009.
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.
恶性横纹肌样瘤（MRT）是一种罕见的致命性儿童肿瘤，最常见于肾脏和大脑。MRT 由 SMARCB1 缺失驱动，但颅外肿瘤中 SMARCB1 缺失的分子后果尚未得到全面描述，且用于颅外 MRT 分析的基因组资源有限。为了提供这些数据，我们使用全基因组测序、全基因组亚硫酸氢盐测序、全转录组（RNA-seq）和 microRNA 测序（miRNA-seq）以及组蛋白修饰谱分析来描述颅外 MRT。我们的分析揭示了基因表达和甲基化亚群，并重点关注失调的途径，包括涉及神经嵴发育的途径。
