A complex karyotype in an atypical teratoid/rhabdoid tumor: case report and review of the literature
Atypical teratoid/rhabdoid tumor (AT/RT) is a highly aggressive and uncommon neoplasm of the central nervous system that usually occurs in children less than 2 years of age. It is characterized by deletions and/or mutations of the INI1 tumor suppressor gene located in chromosome band 22q11.2. We per...
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| Veröffentlicht in: | Journal of neuro-oncology 2011-08, Vol.104 (1), p.375-380 |
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| creator | Coccé, Mariela C. Lubieniecki, Fabiana Kordes, Uwe Alderete, Daniel Gallego, Marta S. |
| description | Atypical teratoid/rhabdoid tumor (AT/RT) is a highly aggressive and uncommon neoplasm of the central nervous system that usually occurs in children less than 2 years of age. It is characterized by deletions and/or mutations of the INI1 tumor suppressor gene located in chromosome band 22q11.2. We performed cytogenetic and molecular studies of an AT/RT on a 15-month-old boy. The tumor showed a complex karyotype with one cell line showing monosomy 22 and another near-tetraploid one with additional chromosomal abnormalities, involving chromosomes 2, 3, 5, 6, and Y, which had not been previously described. Sequence analysis of the tumor did not identify mutations of the INI1 gene. The karyotypic evolution observed in this tumor suggests that INI1 has an epigenetic role in the maintenance of genome integrity by affecting genes, which produces mitotic defects and polyploidy. Finally, this case is the first to support the theory that loss of INI1 could induce the chromosomal instability that might be responsible for the genesis of this tumor. |
| doi_str_mv | 10.1007/s11060-010-0478-0 |
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It is characterized by deletions and/or mutations of the INI1 tumor suppressor gene located in chromosome band 22q11.2. We performed cytogenetic and molecular studies of an AT/RT on a 15-month-old boy. The tumor showed a complex karyotype with one cell line showing monosomy 22 and another near-tetraploid one with additional chromosomal abnormalities, involving chromosomes 2, 3, 5, 6, and Y, which had not been previously described. Sequence analysis of the tumor did not identify mutations of the INI1 gene. The karyotypic evolution observed in this tumor suggests that INI1 has an epigenetic role in the maintenance of genome integrity by affecting genes, which produces mitotic defects and polyploidy. Finally, this case is the first to support the theory that loss of INI1 could induce the chromosomal instability that might be responsible for the genesis of this tumor.</description><identifier>ISSN: 0167-594X</identifier><identifier>EISSN: 1573-7373</identifier><identifier>DOI: 10.1007/s11060-010-0478-0</identifier><identifier>PMID: 21127945</identifier><language>eng</language><publisher>Boston: Springer US</publisher><subject>Age ; Case Report ; Case reports ; Central nervous system ; Children ; Chromosomal Proteins, Non-Histone - genetics ; Chromosome Deletion ; Chromosomes, Human, Pair 22 - genetics ; DNA-Binding Proteins - genetics ; epigenetics ; Evolution ; Evolutionary genetics ; Gene deletion ; Genomes ; Genomic instability ; Humans ; Infant ; INI1 protein ; Karyotypes ; Karyotyping - methods ; Literature reviews ; Male ; Medicine ; Medicine & Public Health ; Monosomy ; Mutation ; Mutation - genetics ; Neurology ; Oncology ; Polyploidy ; Reviews ; Rhabdoid Tumor - diagnosis ; Rhabdoid Tumor - genetics ; SMARCB1 Protein ; Teratoma - diagnosis ; Teratoma - genetics ; Transcription Factors - genetics ; Tumor suppressor genes ; Tumors</subject><ispartof>Journal of neuro-oncology, 2011-08, Vol.104 (1), p.375-380</ispartof><rights>Springer Science+Business Media, LLC. 2010</rights><rights>Springer Science+Business Media, LLC. 2011</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c402t-2af753008739b2d9969ee2e34263e288ce132c71f211dbfafb37dbb26b581aa13</citedby><cites>FETCH-LOGICAL-c402t-2af753008739b2d9969ee2e34263e288ce132c71f211dbfafb37dbb26b581aa13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s11060-010-0478-0$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s11060-010-0478-0$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27922,27923,41486,42555,51317</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21127945$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Coccé, Mariela C.</creatorcontrib><creatorcontrib>Lubieniecki, Fabiana</creatorcontrib><creatorcontrib>Kordes, Uwe</creatorcontrib><creatorcontrib>Alderete, Daniel</creatorcontrib><creatorcontrib>Gallego, Marta S.</creatorcontrib><title>A complex karyotype in an atypical teratoid/rhabdoid tumor: case report and review of the literature</title><title>Journal of neuro-oncology</title><addtitle>J Neurooncol</addtitle><addtitle>J Neurooncol</addtitle><description>Atypical teratoid/rhabdoid tumor (AT/RT) is a highly aggressive and uncommon neoplasm of the central nervous system that usually occurs in children less than 2 years of age. It is characterized by deletions and/or mutations of the INI1 tumor suppressor gene located in chromosome band 22q11.2. We performed cytogenetic and molecular studies of an AT/RT on a 15-month-old boy. The tumor showed a complex karyotype with one cell line showing monosomy 22 and another near-tetraploid one with additional chromosomal abnormalities, involving chromosomes 2, 3, 5, 6, and Y, which had not been previously described. Sequence analysis of the tumor did not identify mutations of the INI1 gene. The karyotypic evolution observed in this tumor suggests that INI1 has an epigenetic role in the maintenance of genome integrity by affecting genes, which produces mitotic defects and polyploidy. Finally, this case is the first to support the theory that loss of INI1 could induce the chromosomal instability that might be responsible for the genesis of this tumor.</description><subject>Age</subject><subject>Case Report</subject><subject>Case reports</subject><subject>Central nervous system</subject><subject>Children</subject><subject>Chromosomal Proteins, Non-Histone - genetics</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Pair 22 - genetics</subject><subject>DNA-Binding Proteins - genetics</subject><subject>epigenetics</subject><subject>Evolution</subject><subject>Evolutionary genetics</subject><subject>Gene deletion</subject><subject>Genomes</subject><subject>Genomic instability</subject><subject>Humans</subject><subject>Infant</subject><subject>INI1 protein</subject><subject>Karyotypes</subject><subject>Karyotyping - methods</subject><subject>Literature reviews</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Monosomy</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Neurology</subject><subject>Oncology</subject><subject>Polyploidy</subject><subject>Reviews</subject><subject>Rhabdoid Tumor - diagnosis</subject><subject>Rhabdoid Tumor - genetics</subject><subject>SMARCB1 Protein</subject><subject>Teratoma - diagnosis</subject><subject>Teratoma - genetics</subject><subject>Transcription Factors - genetics</subject><subject>Tumor suppressor genes</subject><subject>Tumors</subject><issn>0167-594X</issn><issn>1573-7373</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp1kU9r3DAQxUVp6G62_QC9BNFLTm5mJNuyc1tC_hQCubTQm5DtceKNvXIkO22-fSbdpIFAQEID-r03wzwhviJ8RwBzFBEhhwSQb2qKBD6IJWZGJ0Yb_VEsAXOTZGX6eyH2Y9wAMKXxk1goRGXKNFuKZi1rP4w9_ZW3Ljz46WEk2W2l48N1V7teThTc5LvmKNy4quFCTvPgw7GsXSQZaPRhYkHD5X1Hf6Rv5XRDsu_-CedAn8Ve6_pIX57flfh1dvrz5CK5vDr_cbK-TOoU1JQo15pMAxRGl5VqyjIviRTpVOWaVFHUhFrVBlsev6la11baNFWl8ior0DnUK3G48x2Dv5spTnboYk1977bk52hLXldqABWT396QGz-HLQ9niwJ1VhjQDOEOqoOPMVBrx9ANvCWLYJ8CsLsALAdgnwKwwJqDZ-O5Gqj5r3jZOANqB0T-2l5TeO38vusjufyQjg</recordid><startdate>20110801</startdate><enddate>20110801</enddate><creator>Coccé, Mariela C.</creator><creator>Lubieniecki, Fabiana</creator><creator>Kordes, Uwe</creator><creator>Alderete, Daniel</creator><creator>Gallego, Marta S.</creator><general>Springer US</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20110801</creationdate><title>A complex karyotype in an atypical teratoid/rhabdoid tumor: case report and review of the literature</title><author>Coccé, Mariela C. ; Lubieniecki, Fabiana ; Kordes, Uwe ; Alderete, Daniel ; Gallego, Marta S.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c402t-2af753008739b2d9969ee2e34263e288ce132c71f211dbfafb37dbb26b581aa13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Age</topic><topic>Case Report</topic><topic>Case reports</topic><topic>Central nervous system</topic><topic>Children</topic><topic>Chromosomal Proteins, Non-Histone - genetics</topic><topic>Chromosome Deletion</topic><topic>Chromosomes, Human, Pair 22 - genetics</topic><topic>DNA-Binding Proteins - genetics</topic><topic>epigenetics</topic><topic>Evolution</topic><topic>Evolutionary genetics</topic><topic>Gene deletion</topic><topic>Genomes</topic><topic>Genomic instability</topic><topic>Humans</topic><topic>Infant</topic><topic>INI1 protein</topic><topic>Karyotypes</topic><topic>Karyotyping - methods</topic><topic>Literature reviews</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Monosomy</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Neurology</topic><topic>Oncology</topic><topic>Polyploidy</topic><topic>Reviews</topic><topic>Rhabdoid Tumor - diagnosis</topic><topic>Rhabdoid Tumor - genetics</topic><topic>SMARCB1 Protein</topic><topic>Teratoma - diagnosis</topic><topic>Teratoma - genetics</topic><topic>Transcription Factors - genetics</topic><topic>Tumor suppressor genes</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Coccé, Mariela C.</creatorcontrib><creatorcontrib>Lubieniecki, Fabiana</creatorcontrib><creatorcontrib>Kordes, Uwe</creatorcontrib><creatorcontrib>Alderete, Daniel</creatorcontrib><creatorcontrib>Gallego, Marta S.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Journal of neuro-oncology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Coccé, Mariela C.</au><au>Lubieniecki, Fabiana</au><au>Kordes, Uwe</au><au>Alderete, Daniel</au><au>Gallego, Marta S.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A complex karyotype in an atypical teratoid/rhabdoid tumor: case report and review of the literature</atitle><jtitle>Journal of neuro-oncology</jtitle><stitle>J Neurooncol</stitle><addtitle>J Neurooncol</addtitle><date>2011-08-01</date><risdate>2011</risdate><volume>104</volume><issue>1</issue><spage>375</spage><epage>380</epage><pages>375-380</pages><issn>0167-594X</issn><eissn>1573-7373</eissn><abstract>Atypical teratoid/rhabdoid tumor (AT/RT) is a highly aggressive and uncommon neoplasm of the central nervous system that usually occurs in children less than 2 years of age. It is characterized by deletions and/or mutations of the INI1 tumor suppressor gene located in chromosome band 22q11.2. We performed cytogenetic and molecular studies of an AT/RT on a 15-month-old boy. The tumor showed a complex karyotype with one cell line showing monosomy 22 and another near-tetraploid one with additional chromosomal abnormalities, involving chromosomes 2, 3, 5, 6, and Y, which had not been previously described. Sequence analysis of the tumor did not identify mutations of the INI1 gene. The karyotypic evolution observed in this tumor suggests that INI1 has an epigenetic role in the maintenance of genome integrity by affecting genes, which produces mitotic defects and polyploidy. Finally, this case is the first to support the theory that loss of INI1 could induce the chromosomal instability that might be responsible for the genesis of this tumor.</abstract><cop>Boston</cop><pub>Springer US</pub><pmid>21127945</pmid><doi>10.1007/s11060-010-0478-0</doi><tpages>6</tpages></addata></record> |
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| subjects | Age Case Report Case reports Central nervous system Children Chromosomal Proteins, Non-Histone - genetics Chromosome Deletion Chromosomes, Human, Pair 22 - genetics DNA-Binding Proteins - genetics epigenetics Evolution Evolutionary genetics Gene deletion Genomes Genomic instability Humans Infant INI1 protein Karyotypes Karyotyping - methods Literature reviews Male Medicine Medicine & Public Health Monosomy Mutation Mutation - genetics Neurology Oncology Polyploidy Reviews Rhabdoid Tumor - diagnosis Rhabdoid Tumor - genetics SMARCB1 Protein Teratoma - diagnosis Teratoma - genetics Transcription Factors - genetics Tumor suppressor genes Tumors |
| title | A complex karyotype in an atypical teratoid/rhabdoid tumor: case report and review of the literature |
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