Abstract
In a case of astroblastoma, methylation analysis was uninformative, with no clustering with known CNS-HGNET-MN1 cases. Whole genome sequencing however identified a novel MN1-GTSE1 gene fusion (image), confirming the diagnosis of astroblastoma, as well as an EWSR1-PATZ1 gene fusion. Whole genome sequencing, alongside methylation profiling and conventional neuropathology, will continue to lead to improved diagnostics and prognostication for children with brain tumours.
© 2021 The Authors. Neuropathology and Applied Neurobiology published by John Wiley & Sons Ltd on behalf of British Neuropathological Society.
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Brain Neoplasms / diagnosis
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Brain Neoplasms / genetics*
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Brain Neoplasms / pathology
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Female
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Gene Fusion / genetics*
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Humans
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Kruppel-Like Transcription Factors / genetics*
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Microtubule-Associated Proteins / genetics*
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Neoplasms, Neuroepithelial / diagnosis
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Neoplasms, Neuroepithelial / genetics*
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Neoplasms, Neuroepithelial / pathology
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Repressor Proteins / genetics*
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Trans-Activators / genetics*
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Tumor Suppressor Proteins / genetics*
Substances
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GTSE1 protein, human
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Kruppel-Like Transcription Factors
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MN1 protein, human
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Microtubule-Associated Proteins
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PATZ1 protein, human
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Repressor Proteins
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Trans-Activators
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Tumor Suppressor Proteins