Genetic analysis of a malignant meningioma and associated metastases
To identify genes altered in a highly aggressive metastatic meningioma primary as well as its metastases. Exome sequencing of a primary anaplastic meningioma and metastatic lesions in which DNA could be extracted and compared to germline DNA. Genetic analysis of the metastatic sites found 31 common...
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| Veröffentlicht in: | Acta neurochirurgica 2022-05, Vol.164 (5), p.1401-1405 |
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| container_title | Acta neurochirurgica |
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| creator | Huntoon, Kristin Yilmaz, Ayse Selen Pietrzak, Maciej Chen, Xi Yan, Pearlly Toland, Amanda Ewart Elder, J. Bradley |
| description | To identify genes altered in a highly aggressive metastatic meningioma primary as well as its metastases. Exome sequencing of a primary anaplastic meningioma and metastatic lesions in which DNA could be extracted and compared to germline DNA. Genetic analysis of the metastatic sites found 31 common mutations among the primary tumor and two metastatic sites. Additionally, genetic mutations were identified which were either infrequently (
MUC3A
,
ALDH1A3
,
HOXA1
) or not at all previously described in meningiomas (
CASS4
,
CMKLR1
). Exome sequencing of a metastatic meningioma and its distant metastases outside the CNS identified mutations that were not previously well described. |
| doi_str_mv | 10.1007/s00701-021-05101-w |
| format | Article |
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MUC3A
,
ALDH1A3
,
HOXA1
) or not at all previously described in meningiomas (
CASS4
,
CMKLR1
). Exome sequencing of a metastatic meningioma and its distant metastases outside the CNS identified mutations that were not previously well described.</description><identifier>ISSN: 0942-0940</identifier><identifier>ISSN: 0001-6268</identifier><identifier>EISSN: 0942-0940</identifier><identifier>DOI: 10.1007/s00701-021-05101-w</identifier><identifier>PMID: 34981192</identifier><language>eng</language><publisher>Vienna: Springer Vienna</publisher><subject>Brain cancer ; Brain tumors ; Case Report - Brain Tumors ; Deoxyribonucleic acid ; DNA ; Genetic analysis ; HOXA1 protein ; Humans ; Interventional Radiology ; Medicine ; Medicine & Public Health ; Meningeal Neoplasms - genetics ; Meningeal Neoplasms - pathology ; Meningioma ; Meningioma - pathology ; Metastases ; Metastasis ; Minimally Invasive Surgery ; Mutation ; Mutation - genetics ; Neurology ; Neuroradiology ; Neurosurgery ; Surgical Orthopedics ; Tumors ; Zebrafish</subject><ispartof>Acta neurochirurgica, 2022-05, Vol.164 (5), p.1401-1405</ispartof><rights>The Author(s), under exclusive licence to Springer-Verlag GmbH Austria, part of Springer Nature 2022</rights><rights>2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Austria, part of Springer Nature.</rights><rights>The Author(s), under exclusive licence to Springer-Verlag GmbH Austria, part of Springer Nature 2022.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c375t-79161e578bf5b995a9c2db189f73067fd59faf6e18f295c2799d548acadcdfe33</citedby><cites>FETCH-LOGICAL-c375t-79161e578bf5b995a9c2db189f73067fd59faf6e18f295c2799d548acadcdfe33</cites><orcidid>0000-0002-7211-8986</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00701-021-05101-w$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00701-021-05101-w$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,778,782,27907,27908,41471,42540,51302</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34981192$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Huntoon, Kristin</creatorcontrib><creatorcontrib>Yilmaz, Ayse Selen</creatorcontrib><creatorcontrib>Pietrzak, Maciej</creatorcontrib><creatorcontrib>Chen, Xi</creatorcontrib><creatorcontrib>Yan, Pearlly</creatorcontrib><creatorcontrib>Toland, Amanda Ewart</creatorcontrib><creatorcontrib>Elder, J. Bradley</creatorcontrib><title>Genetic analysis of a malignant meningioma and associated metastases</title><title>Acta neurochirurgica</title><addtitle>Acta Neurochir</addtitle><addtitle>Acta Neurochir (Wien)</addtitle><description>To identify genes altered in a highly aggressive metastatic meningioma primary as well as its metastases. Exome sequencing of a primary anaplastic meningioma and metastatic lesions in which DNA could be extracted and compared to germline DNA. Genetic analysis of the metastatic sites found 31 common mutations among the primary tumor and two metastatic sites. Additionally, genetic mutations were identified which were either infrequently (
MUC3A
,
ALDH1A3
,
HOXA1
) or not at all previously described in meningiomas (
CASS4
,
CMKLR1
). Exome sequencing of a metastatic meningioma and its distant metastases outside the CNS identified mutations that were not previously well described.</description><subject>Brain cancer</subject><subject>Brain tumors</subject><subject>Case Report - Brain Tumors</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>Genetic analysis</subject><subject>HOXA1 protein</subject><subject>Humans</subject><subject>Interventional Radiology</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Meningeal Neoplasms - genetics</subject><subject>Meningeal Neoplasms - pathology</subject><subject>Meningioma</subject><subject>Meningioma - pathology</subject><subject>Metastases</subject><subject>Metastasis</subject><subject>Minimally Invasive Surgery</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Neurology</subject><subject>Neuroradiology</subject><subject>Neurosurgery</subject><subject>Surgical Orthopedics</subject><subject>Tumors</subject><subject>Zebrafish</subject><issn>0942-0940</issn><issn>0001-6268</issn><issn>0942-0940</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp9kMtKxDAUhoMozjj6Ai6k4MZNNUmbJlnKeIUBN7oOp2kyZGjTsWkZ5u3N2PGCC-Hc4HznD_kROif4mmDMb0IsmKSYxmQkTpsDNMUyp2ks-PDXPEEnIawwJpTn2TGaZLkUhEg6RXePxpve6QQ81NvgQtLaBJIGarf04PukMd75pWsbiEiVQAitdtCbKm56CDFMOEVHFupgzvZ9ht4e7l_nT-ni5fF5frtIdcZZn3JJCmIYF6VlpZQMpKZVSYS0PMMFtxWTFmxhiLBUMk25lBXLBWiodGVNls3Q1ai77tr3wYReNS5oU9fgTTsERQtSFARLhiN6-QddtUMX_7ijmMixFEJEio6U7toQOmPVunMNdFtFsNp5rEaPVfRYfXqsNvHoYi89lI2pvk--TI1ANgIhrvzSdD9v_yP7AXLehww</recordid><startdate>20220501</startdate><enddate>20220501</enddate><creator>Huntoon, Kristin</creator><creator>Yilmaz, Ayse Selen</creator><creator>Pietrzak, Maciej</creator><creator>Chen, Xi</creator><creator>Yan, Pearlly</creator><creator>Toland, Amanda Ewart</creator><creator>Elder, J. 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Bradley</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c375t-79161e578bf5b995a9c2db189f73067fd59faf6e18f295c2799d548acadcdfe33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Brain cancer</topic><topic>Brain tumors</topic><topic>Case Report - Brain Tumors</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>Genetic analysis</topic><topic>HOXA1 protein</topic><topic>Humans</topic><topic>Interventional Radiology</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Meningeal Neoplasms - genetics</topic><topic>Meningeal Neoplasms - pathology</topic><topic>Meningioma</topic><topic>Meningioma - pathology</topic><topic>Metastases</topic><topic>Metastasis</topic><topic>Minimally Invasive Surgery</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Neurology</topic><topic>Neuroradiology</topic><topic>Neurosurgery</topic><topic>Surgical Orthopedics</topic><topic>Tumors</topic><topic>Zebrafish</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Huntoon, Kristin</creatorcontrib><creatorcontrib>Yilmaz, Ayse Selen</creatorcontrib><creatorcontrib>Pietrzak, Maciej</creatorcontrib><creatorcontrib>Chen, Xi</creatorcontrib><creatorcontrib>Yan, Pearlly</creatorcontrib><creatorcontrib>Toland, Amanda Ewart</creatorcontrib><creatorcontrib>Elder, J. 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Bradley</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic analysis of a malignant meningioma and associated metastases</atitle><jtitle>Acta neurochirurgica</jtitle><stitle>Acta Neurochir</stitle><addtitle>Acta Neurochir (Wien)</addtitle><date>2022-05-01</date><risdate>2022</risdate><volume>164</volume><issue>5</issue><spage>1401</spage><epage>1405</epage><pages>1401-1405</pages><issn>0942-0940</issn><issn>0001-6268</issn><eissn>0942-0940</eissn><abstract>To identify genes altered in a highly aggressive metastatic meningioma primary as well as its metastases. Exome sequencing of a primary anaplastic meningioma and metastatic lesions in which DNA could be extracted and compared to germline DNA. Genetic analysis of the metastatic sites found 31 common mutations among the primary tumor and two metastatic sites. Additionally, genetic mutations were identified which were either infrequently (
MUC3A
,
ALDH1A3
,
HOXA1
) or not at all previously described in meningiomas (
CASS4
,
CMKLR1
). Exome sequencing of a metastatic meningioma and its distant metastases outside the CNS identified mutations that were not previously well described.</abstract><cop>Vienna</cop><pub>Springer Vienna</pub><pmid>34981192</pmid><doi>10.1007/s00701-021-05101-w</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0002-7211-8986</orcidid></addata></record> |
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| subjects | Brain cancer Brain tumors Case Report - Brain Tumors Deoxyribonucleic acid DNA Genetic analysis HOXA1 protein Humans Interventional Radiology Medicine Medicine & Public Health Meningeal Neoplasms - genetics Meningeal Neoplasms - pathology Meningioma Meningioma - pathology Metastases Metastasis Minimally Invasive Surgery Mutation Mutation - genetics Neurology Neuroradiology Neurosurgery Surgical Orthopedics Tumors Zebrafish |
| title | Genetic analysis of a malignant meningioma and associated metastases |
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