A rare case of paediatric astroblastoma with concomitant MN1-GTSE1 and EWSR1-PATZ1 gene fusions altering management.
Journal
Neuropathology and applied neurobiology
ISSN: 1365-2990
Titre abrégé: Neuropathol Appl Neurobiol
Pays: England
ID NLM: 7609829
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
revised:
05
12
2020
received:
29
07
2020
accepted:
27
01
2021
pubmed:
4
2
2021
medline:
29
1
2022
entrez:
3
2
2021
Statut:
ppublish
Résumé
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.
Substances chimiques
GTSE1 protein, human
0
Kruppel-Like Transcription Factors
0
MN1 protein, human
0
Microtubule-Associated Proteins
0
PATZ1 protein, human
0
Repressor Proteins
0
Trans-Activators
0
Tumor Suppressor Proteins
0
Types de publication
Case Reports
Letter
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
882-888Subventions
Organisme : Medical Research Council
ID : G0701018
Pays : United Kingdom
Organisme : Cancer Research UK
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N004272/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : G1100578
Pays : United Kingdom
Informations de copyright
© 2021 The Authors. Neuropathology and Applied Neurobiology published by John Wiley & Sons Ltd on behalf of British Neuropathological Society.
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