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Expanding the spectrum of EWSR1‐PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination

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 borde...

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Autores principales: Rossi, Sabrina, Barresi, Sabina, Giovannoni, Isabella, Alesi, Viola, Ciolfi, Andrea, Colafati, Giovanna Stefania, Diomedi‐Camassei, Francesca, Miele, Evelina, Cacchione, Antonella, Quacquarini, Denise, Carai, Andrea, Tartaglia, Marco, Giannini, Caterina, Giangaspero, Felice, Mastronuzzi, Angela, Alaggio, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8412111/
https://www.ncbi.nlm.nih.gov/pubmed/33378126
http://dx.doi.org/10.1111/bpa.12934
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author Rossi, Sabrina
Barresi, Sabina
Giovannoni, Isabella
Alesi, Viola
Ciolfi, Andrea
Colafati, Giovanna Stefania
Diomedi‐Camassei, Francesca
Miele, Evelina
Cacchione, Antonella
Quacquarini, Denise
Carai, Andrea
Tartaglia, Marco
Giannini, Caterina
Giangaspero, Felice
Mastronuzzi, Angela
Alaggio, Rita
author_facet Rossi, Sabrina
Barresi, Sabina
Giovannoni, Isabella
Alesi, Viola
Ciolfi, Andrea
Colafati, Giovanna Stefania
Diomedi‐Camassei, Francesca
Miele, Evelina
Cacchione, Antonella
Quacquarini, Denise
Carai, Andrea
Tartaglia, Marco
Giannini, Caterina
Giangaspero, Felice
Mastronuzzi, Angela
Alaggio, Rita
author_sort Rossi, Sabrina
collection PubMed
description 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.[Image: see text]
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spelling pubmed-84121112021-09-03 Expanding the spectrum of EWSR1‐PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination Rossi, Sabrina Barresi, Sabina Giovannoni, Isabella Alesi, Viola Ciolfi, Andrea Colafati, Giovanna Stefania Diomedi‐Camassei, Francesca Miele, Evelina Cacchione, Antonella Quacquarini, Denise Carai, Andrea Tartaglia, Marco Giannini, Caterina Giangaspero, Felice Mastronuzzi, Angela Alaggio, Rita Brain Pathol Letter to the Editors 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.[Image: see text] John Wiley and Sons Inc. 2021-02-15 /pmc/articles/PMC8412111/ /pubmed/33378126 http://dx.doi.org/10.1111/bpa.12934 Text en © 2021 The Authors. Brain Pathology published by John Wiley & Sons Ltd on behalf of International Society of Neuropathology. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Letter to the Editors
Rossi, Sabrina
Barresi, Sabina
Giovannoni, Isabella
Alesi, Viola
Ciolfi, Andrea
Colafati, Giovanna Stefania
Diomedi‐Camassei, Francesca
Miele, Evelina
Cacchione, Antonella
Quacquarini, Denise
Carai, Andrea
Tartaglia, Marco
Giannini, Caterina
Giangaspero, Felice
Mastronuzzi, Angela
Alaggio, Rita
Expanding the spectrum of EWSR1‐PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination
title Expanding the spectrum of EWSR1‐PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination
title_full Expanding the spectrum of EWSR1‐PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination
title_fullStr Expanding the spectrum of EWSR1‐PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination
title_full_unstemmed Expanding the spectrum of EWSR1‐PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination
title_short Expanding the spectrum of EWSR1‐PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination
title_sort expanding the spectrum of ewsr1‐patz1 rearranged cns tumors: an infantile case with leptomeningeal dissemination
topic Letter to the Editors
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8412111/
https://www.ncbi.nlm.nih.gov/pubmed/33378126
http://dx.doi.org/10.1111/bpa.12934
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