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

Sabrina Rossi; Sabina Barresi; Isabella Giovannoni; Viola Alesi; Andrea Ciolfi; Giovanna Stefania Colafati; Francesca Diomedi-Camassei; Evelina Miele; Antonella Cacchione; Denise Quacquarini; Andrea Carai; Marco Tartaglia; Caterina Giannini; Felice Giangaspero; Angela Mastronuzzi; Rita Alaggio

doi:10.1111/bpa.12934

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

Sabrina Rossi, Sabina Barresi, Isabella Giovannoni, Viola Alesi, Andrea Ciolfi, Giovanna Stefania Colafati, Francesca Diomedi-Camassei, Evelina Miele, Antonella Cacchione, Denise Quacquarini, Andrea Carai, Marco Tartaglia, Caterina Giannini, Felice Giangaspero, Angela Mastronuzzi, Rita Alaggio

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Abstract

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.

Original language	English
Pages (from-to)	e12934
Journal	Brain Pathology
Volume	31
Issue number	3
DOIs	https://doi.org/10.1111/bpa.12934
Publication status	Published - May 2021

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Rossi, S., Barresi, S., Giovannoni, I., Alesi, V., Ciolfi, A., Colafati, G. S., Diomedi-Camassei, F., Miele, E., Cacchione, A., Quacquarini, D., Carai, A., Tartaglia, M., Giannini, C., Giangaspero, F., Mastronuzzi, A., & Alaggio, R. (2021). Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination. Brain Pathology, 31(3), e12934. https://doi.org/10.1111/bpa.12934

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.

In: Brain Pathology, Vol. 31, No. 3, 05.2021, p. e12934.

Research output: Contribution to journal › Article › peer-review

Rossi, S, Barresi, S, Giovannoni, I, Alesi, V, Ciolfi, A, Colafati, GS, Diomedi-Camassei, F, Miele, E, Cacchione, A, Quacquarini, D, Carai, A, Tartaglia, M, Giannini, C, Giangaspero, F, Mastronuzzi, A & Alaggio, R 2021, 'Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination', Brain Pathology, vol. 31, no. 3, pp. e12934. https://doi.org/10.1111/bpa.12934

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. In: Brain Pathology. 2021 ; Vol. 31, No. 3. pp. e12934.

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abstract = "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.",

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AU - Alesi, Viola

AU - Ciolfi, Andrea

AU - Colafati, Giovanna Stefania

AU - Diomedi-Camassei, Francesca

AU - Miele, Evelina

AU - Cacchione, Antonella

AU - Quacquarini, Denise

AU - Carai, Andrea

AU - Tartaglia, Marco

AU - Giannini, Caterina

AU - Giangaspero, Felice

AU - Mastronuzzi, Angela

AU - Alaggio, Rita

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AB - 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.

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

Abstract

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