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http://dx.doi.org/10.3340/jkns.2018.0061

Atypical Teratoid Rhabdoid Tumour : From Tumours to Therapies  

Richardson, Elizabeth Anne (Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto)
Ho, Ben (Arthur and Sonia Labatt Brain Tumour Research Centre, Hospital for Sick Children)
Huang, Annie (Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto)
Publication Information
Journal of Korean Neurosurgical Society / v.61, no.3, 2018 , pp. 302-311 More about this Journal
Abstract
Atypical teratoid rhabdoid tumours (ATRTs) are the most common malignant central nervous system tumours in children ${\leq}1year$ of age and represent approximately 1-2% of all pediatric brain tumours. ATRT is a primarily monogenic disease characterized by the bi-allelic loss of the SMARCB1 gene, which encodes the hSNF5 subunit of the SWI/SNF chromatin remodeling complex. Though conventional dose chemotherapy is not effective in most ATRT patients, high dose chemotherapy with autologous stem cell transplant, radiotherapy and/or intrathecal chemotherapy all show significant potential to improve patient survival. Recent epigenetic and transcriptional studies highlight three subgroups of ATRT, each with distinct clinical and molecular characteristics with corresponding therapeutic sensitivities, including epigenetic targeting, and inhibition of tyrosine kinases or growth/lineage specific pathways.
Keywords
Brain neoplasms; Rhabdoid tumour; SMARCB1 protein; Human; Antineoplastic agents; Epigenomics; Protein-tyrosine kinases;
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