An EWSR1–EZHIP fusion in a cerebral hemisphere astroblastoma
Astroblastomas are considered extremely rare tumors and have not been formally graded. While gene mutations are used to diagnose these tumors, further research is needed for proper diagnosis and classification. This report presents a case of astroblastoma in a 44‐year‐old woman. A tumor was found to...
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| Veröffentlicht in: | Neuropathology 2023-08, Vol.43 (4), p.340-344 |
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| creator | Liu, Jing Sun, Dongjin Lin, Fan Li, Yun Wu, Tingting Liu, Xia |
| description | Astroblastomas are considered extremely rare tumors and have not been formally graded. While gene mutations are used to diagnose these tumors, further research is needed for proper diagnosis and classification. This report presents a case of astroblastoma in a 44‐year‐old woman. A tumor was found to have histology consistent with astroblastoma, with no MN1 gene changes. Several mutations were present, and fusion of the EWSR1 and EZHIP genes was noted, which has never been reported before in the literature. Fusions of the EWSR1 gene could be characteristics of astroblastomas, in addition to MN1 alterations, and identification of these mutations could help in the diagnosis of these rare tumors. |
| doi_str_mv | 10.1111/neup.12893 |
| format | Article |
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While gene mutations are used to diagnose these tumors, further research is needed for proper diagnosis and classification. This report presents a case of astroblastoma in a 44‐year‐old woman. A tumor was found to have histology consistent with astroblastoma, with no MN1 gene changes. Several mutations were present, and fusion of the EWSR1 and EZHIP genes was noted, which has never been reported before in the literature. Fusions of the EWSR1 gene could be characteristics of astroblastomas, in addition to MN1 alterations, and identification of these mutations could help in the diagnosis of these rare tumors.</description><identifier>ISSN: 0919-6544</identifier><identifier>EISSN: 1440-1789</identifier><identifier>DOI: 10.1111/neup.12893</identifier><identifier>PMID: 36624615</identifier><language>eng</language><publisher>Melbourne: John Wiley & Sons Australia, Ltd</publisher><subject>astroblastoma ; Cerebral hemispheres ; Diagnosis ; EWSR1 ; EWSR1 gene ; EZHIP ; FLI-1 protein ; MN1 ; MN1 protein ; Mutation ; tumor ; Tumors</subject><ispartof>Neuropathology, 2023-08, Vol.43 (4), p.340-344</ispartof><rights>2023 Japanese Society of Neuropathology.</rights><rights>2023 Japanese Society of Neuropathology</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c2833-1345a6fde605b14299dc4501943a3277392112cdf6c3a2201d93ea895829d7943</cites><orcidid>0000-0002-2392-0454 ; 0000-0002-8538-6672</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fneup.12893$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fneup.12893$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/36624615$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Liu, Jing</creatorcontrib><creatorcontrib>Sun, Dongjin</creatorcontrib><creatorcontrib>Lin, Fan</creatorcontrib><creatorcontrib>Li, Yun</creatorcontrib><creatorcontrib>Wu, Tingting</creatorcontrib><creatorcontrib>Liu, Xia</creatorcontrib><title>An EWSR1–EZHIP fusion in a cerebral hemisphere astroblastoma</title><title>Neuropathology</title><addtitle>Neuropathology</addtitle><description>Astroblastomas are considered extremely rare tumors and have not been formally graded. While gene mutations are used to diagnose these tumors, further research is needed for proper diagnosis and classification. This report presents a case of astroblastoma in a 44‐year‐old woman. A tumor was found to have histology consistent with astroblastoma, with no MN1 gene changes. Several mutations were present, and fusion of the EWSR1 and EZHIP genes was noted, which has never been reported before in the literature. Fusions of the EWSR1 gene could be characteristics of astroblastomas, in addition to MN1 alterations, and identification of these mutations could help in the diagnosis of these rare tumors.</description><subject>astroblastoma</subject><subject>Cerebral hemispheres</subject><subject>Diagnosis</subject><subject>EWSR1</subject><subject>EWSR1 gene</subject><subject>EZHIP</subject><subject>FLI-1 protein</subject><subject>MN1</subject><subject>MN1 protein</subject><subject>Mutation</subject><subject>tumor</subject><subject>Tumors</subject><issn>0919-6544</issn><issn>1440-1789</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><recordid>eNp9kMtKw0AUQAdRbK1u_AAJuBNS584rmY1QSrSFokUtgpswSSY0JY860yDd-Q_-oV_i1FSX3s3lwuFcOAidAx6Cm-tat-shkFDSA9QHxrAPQSgPUR9LkL7gjPXQibUrjCGQJDxGPSoEYQJ4H92Mai96eXqEr4_P6HUynXt5a4um9oraU16qjU6MKr2lrgq7XrrTU3ZjmqR0q6nUKTrKVWn12X4P0OI2eh5P_NnD3XQ8mvkpCSn1gTKuRJ5pgXkCjEiZpYxjkIwqSoKASgJA0iwXKVWEYMgk1SqUPCQyCxw1QJedd22at1bbTbxqWlO7lzEJGaNCcuCOuuqo1DTWGp3Ha1NUymxjwPEuVbxLFf-kcvDFXtkmlc7-0N82DoAOeC9Kvf1HFd9Hi3kn_QbSaHGM</recordid><startdate>202308</startdate><enddate>202308</enddate><creator>Liu, Jing</creator><creator>Sun, Dongjin</creator><creator>Lin, Fan</creator><creator>Li, Yun</creator><creator>Wu, Tingting</creator><creator>Liu, Xia</creator><general>John Wiley & Sons Australia, Ltd</general><general>Wiley Subscription Services, Inc</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>K9.</scope><orcidid>https://orcid.org/0000-0002-2392-0454</orcidid><orcidid>https://orcid.org/0000-0002-8538-6672</orcidid></search><sort><creationdate>202308</creationdate><title>An EWSR1–EZHIP fusion in a cerebral hemisphere astroblastoma</title><author>Liu, Jing ; Sun, Dongjin ; Lin, Fan ; Li, Yun ; Wu, Tingting ; Liu, Xia</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2833-1345a6fde605b14299dc4501943a3277392112cdf6c3a2201d93ea895829d7943</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>astroblastoma</topic><topic>Cerebral hemispheres</topic><topic>Diagnosis</topic><topic>EWSR1</topic><topic>EWSR1 gene</topic><topic>EZHIP</topic><topic>FLI-1 protein</topic><topic>MN1</topic><topic>MN1 protein</topic><topic>Mutation</topic><topic>tumor</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Liu, Jing</creatorcontrib><creatorcontrib>Sun, Dongjin</creatorcontrib><creatorcontrib>Lin, Fan</creatorcontrib><creatorcontrib>Li, Yun</creatorcontrib><creatorcontrib>Wu, Tingting</creatorcontrib><creatorcontrib>Liu, Xia</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><jtitle>Neuropathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Liu, Jing</au><au>Sun, Dongjin</au><au>Lin, Fan</au><au>Li, Yun</au><au>Wu, Tingting</au><au>Liu, Xia</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>An EWSR1–EZHIP fusion in a cerebral hemisphere astroblastoma</atitle><jtitle>Neuropathology</jtitle><addtitle>Neuropathology</addtitle><date>2023-08</date><risdate>2023</risdate><volume>43</volume><issue>4</issue><spage>340</spage><epage>344</epage><pages>340-344</pages><issn>0919-6544</issn><eissn>1440-1789</eissn><abstract>Astroblastomas are considered extremely rare tumors and have not been formally graded. While gene mutations are used to diagnose these tumors, further research is needed for proper diagnosis and classification. This report presents a case of astroblastoma in a 44‐year‐old woman. A tumor was found to have histology consistent with astroblastoma, with no MN1 gene changes. Several mutations were present, and fusion of the EWSR1 and EZHIP genes was noted, which has never been reported before in the literature. Fusions of the EWSR1 gene could be characteristics of astroblastomas, in addition to MN1 alterations, and identification of these mutations could help in the diagnosis of these rare tumors.</abstract><cop>Melbourne</cop><pub>John Wiley & Sons Australia, Ltd</pub><pmid>36624615</pmid><doi>10.1111/neup.12893</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0002-2392-0454</orcidid><orcidid>https://orcid.org/0000-0002-8538-6672</orcidid></addata></record> |
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| subjects | astroblastoma Cerebral hemispheres Diagnosis EWSR1 EWSR1 gene EZHIP FLI-1 protein MN1 MN1 protein Mutation tumor Tumors |
| title | An EWSR1–EZHIP fusion in a cerebral hemisphere astroblastoma |
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