Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination.
EWSR1-PATZ1 rearranged CNS tumor
glioneural tumor
high-grade
infantile
leptomeningeal dissemination
Journal
Brain pathology (Zurich, Switzerland)
ISSN: 1750-3639
Titre abrégé: Brain Pathol
Pays: Switzerland
ID NLM: 9216781
Informations de publication
Date de publication:
05 2021
05 2021
Historique:
revised:
08
12
2020
received:
14
11
2020
accepted:
21
12
2020
pubmed:
31
12
2020
medline:
3
2
2022
entrez:
30
12
2020
Statut:
ppublish
Résumé
We report on a case of EWSR1-PATZ1 rearranged brain tumor occurring in a 17 month-old child, originally interpreted as an infantile glioblastoma. Our case shows important analogies with the 2 previously reported cases, including the intraventricular location, the histologic appearance (pushing borders, oligodendrocyte-like morphology, rich vascular network) and the glioneural immunophenotype, supporting the role of these features as relevant clues to the diagnosis. On the other hand, our case displays unique characteristics, i.e. the onset in an infant, the presence of a focal high-grade component and the leptomeningeal dissemination, pointing to the importance of considering this entity in the differential diagnosis of an infantile glial/glioneural tumor.
Identifiants
pubmed: 33378126
doi: 10.1111/bpa.12934
pmc: PMC8412111
doi:
Substances chimiques
EWSR1 protein, human
0
Kruppel-Like Transcription Factors
0
Oncogene Proteins, Fusion
0
PATZ1 protein, human
0
RNA-Binding Protein EWS
0
Repressor Proteins
0
Types de publication
Letter
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e12934Informations de copyright
© 2021 The Authors. Brain Pathology published by John Wiley & Sons Ltd on behalf of International Society of Neuropathology.
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