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ABSTRACT: Introduction
Atypical teratoid rhabdoid tumor (ATRT) is a rare, often lethal brain tumor of childhood characterized by a complex epigenetic landscape amongst a simple genetic background. Recent molecular studies have defined key biologic events that contribute to tumorigenesis and molecular subtypes of ATRT.Methods
Seminal studies on ATRT are reviewed with an emphasis on molecular pathogenesis and its relevance to novel therapeutics.Results
In this review, we summarize the key clinicopathologic and molecular features of ATRT, completed and ongoing clinical trials and outline the translational potential of novel insights into the molecular pathogenesis of this tumor.Conclusions
SMARCB1 loss is the key genetic event in ATRT pathogenesis that leads to widespread epigenetic dysregulation and loss of lineage-specific enhancers. Current work is defining subtype-specific treatments that target underlying molecular derangements that drive tumorigenesis.
SUBMITTER: Nesvick CL
PROVIDER: S-EPMC8230985 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Nesvick Cody L CL Lafay-Cousin Lucie L Raghunathan Aditya A Bouffet Eric E Huang Annie A AA Daniels David J DJ
Journal of neuro-oncology 20201006 1
<h4>Introduction</h4>Atypical teratoid rhabdoid tumor (ATRT) is a rare, often lethal brain tumor of childhood characterized by a complex epigenetic landscape amongst a simple genetic background. Recent molecular studies have defined key biologic events that contribute to tumorigenesis and molecular subtypes of ATRT.<h4>Methods</h4>Seminal studies on ATRT are reviewed with an emphasis on molecular pathogenesis and its relevance to novel therapeutics.<h4>Results</h4>In this review, we summarize th ...[more]