Detection of chromosome imbalances in retinoblastoma by parallel karyotype and CGH analyses
We have studied a series of 20 primary retinoblastomas by karyotypic analysis and comparative genomic hybridization (CGH), to perform an exhaustive evaluation of chromosome imbalances in this tumor. In addition, 4 tumors were studied by CGH only. On the whole, CGH results were largely in agreement w...
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| Veröffentlicht in: | Genes chromosomes & cancer 2000-08, Vol.28 (4), p.370-379 |
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| container_title | Genes chromosomes & cancer |
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| creator | Mairal, Aline Pinglier, Evelyne Gilbert, Elisabeth Peter, Martine Validire, Pierre Desjardins, Laurence Doz, François Aurias, Alain Couturier, Jérôme |
| description | We have studied a series of 20 primary retinoblastomas by karyotypic analysis and comparative genomic hybridization (CGH), to perform an exhaustive evaluation of chromosome imbalances in this tumor. In addition, 4 tumors were studied by CGH only. On the whole, CGH results were largely in agreement with those of karyotypic analysis and with known cytogenetic data. The most frequent imbalances were +6p (13/24 cases), +1q (12/24), −16/−16q (11/24), and +2p (9/24). Recurrent high‐level amplifications were observed in 2p23–25 and 1q21. Amplification of 2p23–25, present in 4 cases among which 3 showed double‐minute chromosomes, was related to MYCN amplification, as demonstrated by FISH and PCR. No evident correlation was found in this small series between any of the imbalances identified and either the differentiation or the histoprognostic risk. Genes Chromosomes Cancer 28:370–379, 2000. © 2000 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/1098-2264(200008)28:4<370::AID-GCC2>3.0.CO;2-8 |
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Genes Chromosomes Cancer 28:370–379, 2000. © 2000 Wiley‐Liss, Inc.</description><identifier>ISSN: 1045-2257</identifier><identifier>EISSN: 1098-2264</identifier><identifier>DOI: 10.1002/1098-2264(200008)28:4<370::AID-GCC2>3.0.CO;2-8</identifier><identifier>PMID: 10862045</identifier><language>eng</language><publisher>New York: John Wiley & Sons, Inc</publisher><subject>Adolescent ; Child ; Child, Preschool ; Chromosome Aberrations ; Chromosome Deletion ; Female ; Gene Amplification ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping - methods ; Male ; Nucleic Acid Hybridization - methods ; Polymerase Chain Reaction ; Retinoblastoma - genetics</subject><ispartof>Genes chromosomes & cancer, 2000-08, Vol.28 (4), p.370-379</ispartof><rights>Copyright © 2000 Wiley‐Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3032-78030cc51c25225f80b0ac4461390376cac54f978178ec4717ad1431882d24363</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2F1098-2264%28200008%2928%3A4%3C370%3A%3AAID-GCC2%3E3.0.CO%3B2-8$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2F1098-2264%28200008%2928%3A4%3C370%3A%3AAID-GCC2%3E3.0.CO%3B2-8$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10862045$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mairal, Aline</creatorcontrib><creatorcontrib>Pinglier, Evelyne</creatorcontrib><creatorcontrib>Gilbert, Elisabeth</creatorcontrib><creatorcontrib>Peter, Martine</creatorcontrib><creatorcontrib>Validire, Pierre</creatorcontrib><creatorcontrib>Desjardins, Laurence</creatorcontrib><creatorcontrib>Doz, François</creatorcontrib><creatorcontrib>Aurias, Alain</creatorcontrib><creatorcontrib>Couturier, Jérôme</creatorcontrib><title>Detection of chromosome imbalances in retinoblastoma by parallel karyotype and CGH analyses</title><title>Genes chromosomes & cancer</title><addtitle>Genes Chromosom. Cancer</addtitle><description>We have studied a series of 20 primary retinoblastomas by karyotypic analysis and comparative genomic hybridization (CGH), to perform an exhaustive evaluation of chromosome imbalances in this tumor. In addition, 4 tumors were studied by CGH only. On the whole, CGH results were largely in agreement with those of karyotypic analysis and with known cytogenetic data. The most frequent imbalances were +6p (13/24 cases), +1q (12/24), −16/−16q (11/24), and +2p (9/24). Recurrent high‐level amplifications were observed in 2p23–25 and 1q21. Amplification of 2p23–25, present in 4 cases among which 3 showed double‐minute chromosomes, was related to MYCN amplification, as demonstrated by FISH and PCR. No evident correlation was found in this small series between any of the imbalances identified and either the differentiation or the histoprognostic risk. Genes Chromosomes Cancer 28:370–379, 2000. © 2000 Wiley‐Liss, Inc.</description><subject>Adolescent</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome Aberrations</subject><subject>Chromosome Deletion</subject><subject>Female</subject><subject>Gene Amplification</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Infant</subject><subject>Karyotyping - methods</subject><subject>Male</subject><subject>Nucleic Acid Hybridization - methods</subject><subject>Polymerase Chain Reaction</subject><subject>Retinoblastoma - genetics</subject><issn>1045-2257</issn><issn>1098-2264</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqVkE1v1DAQhi0EoqXwF5BPCA5Z_BXbuyCkKoW0UtUViC_BYeR4HRHqxIudFeTf45Cq4sAFX2ZGfud9Rw9CkpIVJYQ9p2StC8akeMpIfvoZ0xvxkiuy2ZxenBV1VbFXfEVW1fYFK_QddHy7cHfuRZn7Uh2hByl9z_uSr8v76IgSLVn-PEZfz9zo7NiFAYcW228x9CGF3uGub4w3g3UJdwOObuyG0HiTxtAb3Ex4b6Lx3nl8beIUxmnvsBl2uKrPczV-Si49RPda45N7dFNP0Ic3r99X58Xltr6oTi8LywlnhdKEE2tLalmZj201aYixQkjK14QraY0tRbtWmirtrFBUmR0VnGrNdkxwyU_Qk8V3H8OPg0sj9F2yzufzXTgkUJQRxpTIwqtFaGNIKboW9rHr8_1ACcy4YaYHMz1YcAPTICDjBsi4YcYNHAhUW2Cgs-Hjm-RD07vdX3YL3yzYLoKfnXfTf8T9I-3PnB2LxbFLo_t162jiNUjFVQmfrmp4-5GS-su7zyD5b9japI8</recordid><startdate>200008</startdate><enddate>200008</enddate><creator>Mairal, Aline</creator><creator>Pinglier, Evelyne</creator><creator>Gilbert, Elisabeth</creator><creator>Peter, Martine</creator><creator>Validire, Pierre</creator><creator>Desjardins, Laurence</creator><creator>Doz, François</creator><creator>Aurias, Alain</creator><creator>Couturier, Jérôme</creator><general>John Wiley & Sons, Inc</general><scope>BSCLL</scope><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>7X8</scope></search><sort><creationdate>200008</creationdate><title>Detection of chromosome imbalances in retinoblastoma by parallel karyotype and CGH analyses</title><author>Mairal, Aline ; Pinglier, Evelyne ; Gilbert, Elisabeth ; Peter, Martine ; Validire, Pierre ; Desjardins, Laurence ; Doz, François ; Aurias, Alain ; Couturier, Jérôme</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3032-78030cc51c25225f80b0ac4461390376cac54f978178ec4717ad1431882d24363</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Adolescent</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosome Aberrations</topic><topic>Chromosome Deletion</topic><topic>Female</topic><topic>Gene Amplification</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Infant</topic><topic>Karyotyping - methods</topic><topic>Male</topic><topic>Nucleic Acid Hybridization - methods</topic><topic>Polymerase Chain Reaction</topic><topic>Retinoblastoma - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mairal, Aline</creatorcontrib><creatorcontrib>Pinglier, Evelyne</creatorcontrib><creatorcontrib>Gilbert, Elisabeth</creatorcontrib><creatorcontrib>Peter, Martine</creatorcontrib><creatorcontrib>Validire, Pierre</creatorcontrib><creatorcontrib>Desjardins, Laurence</creatorcontrib><creatorcontrib>Doz, François</creatorcontrib><creatorcontrib>Aurias, Alain</creatorcontrib><creatorcontrib>Couturier, Jérôme</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Genes chromosomes & cancer</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mairal, Aline</au><au>Pinglier, Evelyne</au><au>Gilbert, Elisabeth</au><au>Peter, Martine</au><au>Validire, Pierre</au><au>Desjardins, Laurence</au><au>Doz, François</au><au>Aurias, Alain</au><au>Couturier, Jérôme</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Detection of chromosome imbalances in retinoblastoma by parallel karyotype and CGH analyses</atitle><jtitle>Genes chromosomes & cancer</jtitle><addtitle>Genes Chromosom. Cancer</addtitle><date>2000-08</date><risdate>2000</risdate><volume>28</volume><issue>4</issue><spage>370</spage><epage>379</epage><pages>370-379</pages><issn>1045-2257</issn><eissn>1098-2264</eissn><abstract>We have studied a series of 20 primary retinoblastomas by karyotypic analysis and comparative genomic hybridization (CGH), to perform an exhaustive evaluation of chromosome imbalances in this tumor. In addition, 4 tumors were studied by CGH only. On the whole, CGH results were largely in agreement with those of karyotypic analysis and with known cytogenetic data. The most frequent imbalances were +6p (13/24 cases), +1q (12/24), −16/−16q (11/24), and +2p (9/24). Recurrent high‐level amplifications were observed in 2p23–25 and 1q21. Amplification of 2p23–25, present in 4 cases among which 3 showed double‐minute chromosomes, was related to MYCN amplification, as demonstrated by FISH and PCR. 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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adolescent Child Child, Preschool Chromosome Aberrations Chromosome Deletion Female Gene Amplification Humans In Situ Hybridization, Fluorescence Infant Karyotyping - methods Male Nucleic Acid Hybridization - methods Polymerase Chain Reaction Retinoblastoma - genetics |
| title | Detection of chromosome imbalances in retinoblastoma by parallel karyotype and CGH analyses |
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