Refining the Breakpoints of Three New Translocations Identified in Myelodysplastic Syndromes
Recurrent translocations are uncommon in myelodysplastic syndromes (MDS). Three new recurrent translocations, namely der(12)t(3;12)(q13;p13), t(11;13;22)(q13;q14;q12) and der(17)t(13;17)(q21;p13), identified by conventional cytogenetics (CC) in 4 MDS patients, were further characterized using a pane...
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| Veröffentlicht in: | Acta haematologica 2016-01, Vol.135 (2), p.94-100 |
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| creator | Costa, Dolors Muñoz, Concha Carrió, Ana Arias, Amparo Gómez, Cándida Solé, Francesc Espinet, Blanca Azaceta, Gemma Calasanz, María J. Nomdedeu, Meritxell Calvo, Xavier Campo, Elias Nomdedeu, Benet |
| description | Recurrent translocations are uncommon in myelodysplastic syndromes (MDS). Three new recurrent translocations, namely der(12)t(3;12)(q13;p13), t(11;13;22)(q13;q14;q12) and der(17)t(13;17)(q21;p13), identified by conventional cytogenetics (CC) in 4 MDS patients, were further characterized using a panel of commercial and homemade fluorescence in situ hybridization (FISH) probes. The goal of this study was to determine the precise breakpoints and to identify genes that could be related with the neoplastic process. Half of the breakpoints (4/8) were precisely identified and in the remaining half they were narrowed to a region ranging from 14 to 926 kb. All the studied breakpoints had interstitial or terminal deletions ranging from 536 kb to 89 Mb, and only those 7 Mb were detected by CC. The genes located in or around the breakpoints described in our study have not been previously related to MDS. The deleted regions include the ETV6 and RB1 genes, among others, and exclude the TP53 gene. FISH studies were useful to refine the breakpoints of the translocations, but further studies are needed to determine the role of the involved genes in the neoplastic process. |
| doi_str_mv | 10.1159/000439161 |
| format | Article |
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Three new recurrent translocations, namely der(12)t(3;12)(q13;p13), t(11;13;22)(q13;q14;q12) and der(17)t(13;17)(q21;p13), identified by conventional cytogenetics (CC) in 4 MDS patients, were further characterized using a panel of commercial and homemade fluorescence in situ hybridization (FISH) probes. The goal of this study was to determine the precise breakpoints and to identify genes that could be related with the neoplastic process. Half of the breakpoints (4/8) were precisely identified and in the remaining half they were narrowed to a region ranging from 14 to 926 kb. All the studied breakpoints had interstitial or terminal deletions ranging from 536 kb to 89 Mb, and only those 7 Mb were detected by CC. The genes located in or around the breakpoints described in our study have not been previously related to MDS. The deleted regions include the ETV6 and RB1 genes, among others, and exclude the TP53 gene. FISH studies were useful to refine the breakpoints of the translocations, but further studies are needed to determine the role of the involved genes in the neoplastic process.</description><identifier>ISSN: 0001-5792</identifier><identifier>EISSN: 1421-9662</identifier><identifier>DOI: 10.1159/000439161</identifier><identifier>PMID: 26509426</identifier><language>eng</language><publisher>Basel, Switzerland</publisher><subject>Aged ; Aged, 80 and over ; Chromosome Mapping ; ETS Translocation Variant 6 Protein ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Middle Aged ; Myelodysplastic Syndromes - genetics ; Myelodysplastic Syndromes - pathology ; Original Paper ; Proto-Oncogene Proteins c-ets - genetics ; Repressor Proteins - genetics ; Retinoblastoma Protein - genetics ; Translocation, Genetic ; Tumor Suppressor Protein p53 - genetics</subject><ispartof>Acta haematologica, 2016-01, Vol.135 (2), p.94-100</ispartof><rights>2015 S. Karger AG, Basel</rights><rights>2015 S. Karger AG, Basel.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c376t-f95b2d8d4309586fddc74f30786736dd9daccd2df27b1082fc559cd12956a0d03</citedby><cites>FETCH-LOGICAL-c376t-f95b2d8d4309586fddc74f30786736dd9daccd2df27b1082fc559cd12956a0d03</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,782,786,2431,27931,27932</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26509426$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Costa, Dolors</creatorcontrib><creatorcontrib>Muñoz, Concha</creatorcontrib><creatorcontrib>Carrió, Ana</creatorcontrib><creatorcontrib>Arias, Amparo</creatorcontrib><creatorcontrib>Gómez, Cándida</creatorcontrib><creatorcontrib>Solé, Francesc</creatorcontrib><creatorcontrib>Espinet, Blanca</creatorcontrib><creatorcontrib>Azaceta, Gemma</creatorcontrib><creatorcontrib>Calasanz, María J.</creatorcontrib><creatorcontrib>Nomdedeu, Meritxell</creatorcontrib><creatorcontrib>Calvo, Xavier</creatorcontrib><creatorcontrib>Campo, Elias</creatorcontrib><creatorcontrib>Nomdedeu, Benet</creatorcontrib><title>Refining the Breakpoints of Three New Translocations Identified in Myelodysplastic Syndromes</title><title>Acta haematologica</title><addtitle>Acta Haematol</addtitle><description>Recurrent translocations are uncommon in myelodysplastic syndromes (MDS). Three new recurrent translocations, namely der(12)t(3;12)(q13;p13), t(11;13;22)(q13;q14;q12) and der(17)t(13;17)(q21;p13), identified by conventional cytogenetics (CC) in 4 MDS patients, were further characterized using a panel of commercial and homemade fluorescence in situ hybridization (FISH) probes. The goal of this study was to determine the precise breakpoints and to identify genes that could be related with the neoplastic process. Half of the breakpoints (4/8) were precisely identified and in the remaining half they were narrowed to a region ranging from 14 to 926 kb. All the studied breakpoints had interstitial or terminal deletions ranging from 536 kb to 89 Mb, and only those 7 Mb were detected by CC. The genes located in or around the breakpoints described in our study have not been previously related to MDS. The deleted regions include the ETV6 and RB1 genes, among others, and exclude the TP53 gene. FISH studies were useful to refine the breakpoints of the translocations, but further studies are needed to determine the role of the involved genes in the neoplastic process.</description><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Chromosome Mapping</subject><subject>ETS Translocation Variant 6 Protein</subject><subject>Female</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Karyotyping</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Myelodysplastic Syndromes - genetics</subject><subject>Myelodysplastic Syndromes - pathology</subject><subject>Original Paper</subject><subject>Proto-Oncogene Proteins c-ets - genetics</subject><subject>Repressor Proteins - genetics</subject><subject>Retinoblastoma Protein - genetics</subject><subject>Translocation, Genetic</subject><subject>Tumor Suppressor Protein p53 - genetics</subject><issn>0001-5792</issn><issn>1421-9662</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo90M9LwzAUB_AgipvTg3eRXD1Uk7RJm6MOfwymgtabULK8ZIvr0pJUpP-9lc2dHu_x-b7DF6FzSq4p5fKGEJKlkgp6gMY0YzSRQrBDNB7uNOG5ZCN0EuPXsLE8lcdoxAQnMmNijD7fjHXe-SXuVgbfBaPWbeN8F3FjcbkKxuAX84PLoHysG6061_iIZ2B856wzgJ3Hz72pG-hjW6vYOY3few-h2Zh4io6sqqM5280J-ni4L6dPyfz1cTa9nSc6zUWXWMkXDArIUiJ5ISyAzjObkrwQeSoAJCitgYFl-YKSglnNudRAmeRCESDpBF1t_-rQxBiMrdrgNir0FSXVX0PVvqHBXm5t-73YGNjL_0oGcLEFaxWWJuzBLv8LFdNq0w</recordid><startdate>20160101</startdate><enddate>20160101</enddate><creator>Costa, Dolors</creator><creator>Muñoz, Concha</creator><creator>Carrió, Ana</creator><creator>Arias, Amparo</creator><creator>Gómez, Cándida</creator><creator>Solé, Francesc</creator><creator>Espinet, Blanca</creator><creator>Azaceta, Gemma</creator><creator>Calasanz, María J.</creator><creator>Nomdedeu, Meritxell</creator><creator>Calvo, Xavier</creator><creator>Campo, Elias</creator><creator>Nomdedeu, Benet</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope></search><sort><creationdate>20160101</creationdate><title>Refining the Breakpoints of Three New Translocations Identified in Myelodysplastic Syndromes</title><author>Costa, Dolors ; Muñoz, Concha ; Carrió, Ana ; Arias, Amparo ; Gómez, Cándida ; Solé, Francesc ; Espinet, Blanca ; Azaceta, Gemma ; Calasanz, María J. ; Nomdedeu, Meritxell ; Calvo, Xavier ; Campo, Elias ; Nomdedeu, Benet</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c376t-f95b2d8d4309586fddc74f30786736dd9daccd2df27b1082fc559cd12956a0d03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Chromosome Mapping</topic><topic>ETS Translocation Variant 6 Protein</topic><topic>Female</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Karyotyping</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Myelodysplastic Syndromes - genetics</topic><topic>Myelodysplastic Syndromes - pathology</topic><topic>Original Paper</topic><topic>Proto-Oncogene Proteins c-ets - genetics</topic><topic>Repressor Proteins - genetics</topic><topic>Retinoblastoma Protein - genetics</topic><topic>Translocation, Genetic</topic><topic>Tumor Suppressor Protein p53 - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Costa, Dolors</creatorcontrib><creatorcontrib>Muñoz, Concha</creatorcontrib><creatorcontrib>Carrió, Ana</creatorcontrib><creatorcontrib>Arias, Amparo</creatorcontrib><creatorcontrib>Gómez, Cándida</creatorcontrib><creatorcontrib>Solé, Francesc</creatorcontrib><creatorcontrib>Espinet, Blanca</creatorcontrib><creatorcontrib>Azaceta, Gemma</creatorcontrib><creatorcontrib>Calasanz, María J.</creatorcontrib><creatorcontrib>Nomdedeu, Meritxell</creatorcontrib><creatorcontrib>Calvo, Xavier</creatorcontrib><creatorcontrib>Campo, Elias</creatorcontrib><creatorcontrib>Nomdedeu, Benet</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><jtitle>Acta haematologica</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Costa, Dolors</au><au>Muñoz, Concha</au><au>Carrió, Ana</au><au>Arias, Amparo</au><au>Gómez, Cándida</au><au>Solé, Francesc</au><au>Espinet, Blanca</au><au>Azaceta, Gemma</au><au>Calasanz, María J.</au><au>Nomdedeu, Meritxell</au><au>Calvo, Xavier</au><au>Campo, Elias</au><au>Nomdedeu, Benet</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Refining the Breakpoints of Three New Translocations Identified in Myelodysplastic Syndromes</atitle><jtitle>Acta haematologica</jtitle><addtitle>Acta Haematol</addtitle><date>2016-01-01</date><risdate>2016</risdate><volume>135</volume><issue>2</issue><spage>94</spage><epage>100</epage><pages>94-100</pages><issn>0001-5792</issn><eissn>1421-9662</eissn><abstract>Recurrent translocations are uncommon in myelodysplastic syndromes (MDS). Three new recurrent translocations, namely der(12)t(3;12)(q13;p13), t(11;13;22)(q13;q14;q12) and der(17)t(13;17)(q21;p13), identified by conventional cytogenetics (CC) in 4 MDS patients, were further characterized using a panel of commercial and homemade fluorescence in situ hybridization (FISH) probes. The goal of this study was to determine the precise breakpoints and to identify genes that could be related with the neoplastic process. Half of the breakpoints (4/8) were precisely identified and in the remaining half they were narrowed to a region ranging from 14 to 926 kb. All the studied breakpoints had interstitial or terminal deletions ranging from 536 kb to 89 Mb, and only those 7 Mb were detected by CC. The genes located in or around the breakpoints described in our study have not been previously related to MDS. The deleted regions include the ETV6 and RB1 genes, among others, and exclude the TP53 gene. FISH studies were useful to refine the breakpoints of the translocations, but further studies are needed to determine the role of the involved genes in the neoplastic process.</abstract><cop>Basel, Switzerland</cop><pmid>26509426</pmid><doi>10.1159/000439161</doi><tpages>7</tpages></addata></record> |
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| subjects | Aged Aged, 80 and over Chromosome Mapping ETS Translocation Variant 6 Protein Female Humans In Situ Hybridization, Fluorescence Karyotyping Male Middle Aged Myelodysplastic Syndromes - genetics Myelodysplastic Syndromes - pathology Original Paper Proto-Oncogene Proteins c-ets - genetics Repressor Proteins - genetics Retinoblastoma Protein - genetics Translocation, Genetic Tumor Suppressor Protein p53 - genetics |
| title | Refining the Breakpoints of Three New Translocations Identified in Myelodysplastic Syndromes |
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