A rare case of paediatric astroblastoma with concomitant <i>MN1</i>‐<i>GTSE1</i> and <i>EWSR1</i>‐<i>PATZ1</i> gene fusions altering management
Karan R. Chadda, Katherine Holland, Daniel Scoffings, Andrew Dean, Jessica C. Pickles, Sam Behjati, Thomas S. Jacques, Jamie Trotman, Patrick Tarpey, Kieren Allinson, Matthew J. Murray
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.
Topics & Concepts
NeuropathologyBiologyFusion geneGenomeGeneMethylationComputational biologyBioinformaticsGeneticsPathologyMedicineDiseaseGlioma Diagnosis and TreatmentEpigenetics and DNA MethylationHedgehog Signaling Pathway Studies