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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| Veröffentlicht in: | Brain pathology (Zurich, Switzerland) Switzerland), 2021-05, Vol.31 (3), p.e12934-n/a |
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| creator | 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 |
| 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. |
| doi_str_mv | 10.1111/bpa.12934 |
| format | Article |
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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.</description><identifier>ISSN: 1015-6305</identifier><identifier>EISSN: 1750-3639</identifier><identifier>DOI: 10.1111/bpa.12934</identifier><identifier>PMID: 33378126</identifier><language>eng</language><publisher>Switzerland: John Wiley & Sons, Inc</publisher><subject>Brain cancer ; Brain Neoplasms - genetics ; Brain Neoplasms - pathology ; Brain tumors ; Cell cycle ; Central Nervous System - pathology ; Chemotherapy ; Conflicts of interest ; Diagnosis ; Differential diagnosis ; EWSR1‐PATZ1 rearranged CNS tumor ; FLI-1 protein ; Gene Fusion - genetics ; Gene Rearrangement - genetics ; Glioblastoma ; Glioma ; Glioma - genetics ; Glioma - pathology ; glioneural tumor ; high‐grade ; Humans ; infantile ; Kinases ; Kruppel-Like Transcription Factors - genetics ; leptomeningeal dissemination ; Letter to the Editor ; Letter to the Editors ; Meninges ; Morphology ; Mutation ; Oncogene Proteins, Fusion - genetics ; Pediatrics ; Repressor Proteins - genetics ; RNA-Binding Protein EWS - genetics ; Sarcoma ; Tumors</subject><ispartof>Brain pathology (Zurich, Switzerland), 2021-05, Vol.31 (3), p.e12934-n/a</ispartof><rights>2021 The Authors. Brain Pathology published by John Wiley & Sons Ltd on behalf of International Society of Neuropathology.</rights><rights>2021. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the "License"). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4434-5303cc044665d3adfebfc2c9068c6838e4dfc0b88587d5e99ecea62166ba7b263</citedby><cites>FETCH-LOGICAL-c4434-5303cc044665d3adfebfc2c9068c6838e4dfc0b88587d5e99ecea62166ba7b263</cites><orcidid>0000-0002-1477-8855</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8412111/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8412111/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,724,777,781,861,882,1412,11543,27905,27906,45555,45556,46033,46457,53772,53774</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33378126$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rossi, Sabrina</creatorcontrib><creatorcontrib>Barresi, Sabina</creatorcontrib><creatorcontrib>Giovannoni, Isabella</creatorcontrib><creatorcontrib>Alesi, Viola</creatorcontrib><creatorcontrib>Ciolfi, Andrea</creatorcontrib><creatorcontrib>Colafati, Giovanna Stefania</creatorcontrib><creatorcontrib>Diomedi‐Camassei, Francesca</creatorcontrib><creatorcontrib>Miele, Evelina</creatorcontrib><creatorcontrib>Cacchione, Antonella</creatorcontrib><creatorcontrib>Quacquarini, Denise</creatorcontrib><creatorcontrib>Carai, Andrea</creatorcontrib><creatorcontrib>Tartaglia, Marco</creatorcontrib><creatorcontrib>Giannini, Caterina</creatorcontrib><creatorcontrib>Giangaspero, Felice</creatorcontrib><creatorcontrib>Mastronuzzi, Angela</creatorcontrib><creatorcontrib>Alaggio, Rita</creatorcontrib><title>Expanding the spectrum of EWSR1‐PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination</title><title>Brain pathology (Zurich, Switzerland)</title><addtitle>Brain Pathol</addtitle><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. 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Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Brain pathology (Zurich, Switzerland)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rossi, Sabrina</au><au>Barresi, Sabina</au><au>Giovannoni, Isabella</au><au>Alesi, Viola</au><au>Ciolfi, Andrea</au><au>Colafati, Giovanna Stefania</au><au>Diomedi‐Camassei, Francesca</au><au>Miele, Evelina</au><au>Cacchione, Antonella</au><au>Quacquarini, Denise</au><au>Carai, Andrea</au><au>Tartaglia, Marco</au><au>Giannini, Caterina</au><au>Giangaspero, Felice</au><au>Mastronuzzi, Angela</au><au>Alaggio, Rita</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Expanding the spectrum of EWSR1‐PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination</atitle><jtitle>Brain pathology (Zurich, Switzerland)</jtitle><addtitle>Brain Pathol</addtitle><date>2021-05</date><risdate>2021</risdate><volume>31</volume><issue>3</issue><spage>e12934</spage><epage>n/a</epage><pages>e12934-n/a</pages><issn>1015-6305</issn><eissn>1750-3639</eissn><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.</abstract><cop>Switzerland</cop><pub>John Wiley & Sons, Inc</pub><pmid>33378126</pmid><doi>10.1111/bpa.12934</doi><tpages>4</tpages><orcidid>https://orcid.org/0000-0002-1477-8855</orcidid><oa>free_for_read</oa></addata></record> |
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| ispartof | Brain pathology (Zurich, Switzerland), 2021-05, Vol.31 (3), p.e12934-n/a |
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| language | eng |
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| source | MEDLINE; DOAJ Directory of Open Access Journals; Wiley Online Library Journals Frontfile Complete; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Wiley-Blackwell Open Access Titles; PubMed Central |
| subjects | Brain cancer Brain Neoplasms - genetics Brain Neoplasms - pathology Brain tumors Cell cycle Central Nervous System - pathology Chemotherapy Conflicts of interest Diagnosis Differential diagnosis EWSR1‐PATZ1 rearranged CNS tumor FLI-1 protein Gene Fusion - genetics Gene Rearrangement - genetics Glioblastoma Glioma Glioma - genetics Glioma - pathology glioneural tumor high‐grade Humans infantile Kinases Kruppel-Like Transcription Factors - genetics leptomeningeal dissemination Letter to the Editor Letter to the Editors Meninges Morphology Mutation Oncogene Proteins, Fusion - genetics Pediatrics Repressor Proteins - genetics RNA-Binding Protein EWS - genetics Sarcoma Tumors |
| title | Expanding the spectrum of EWSR1‐PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination |
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