{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:33:39Z","timestamp":1745469219775,"version":"3.40.4"},"reference-count":33,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2013,11,8]],"date-time":"2013-11-08T00:00:00Z","timestamp":1383868800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2013,11,8]],"date-time":"2013-11-08T00:00:00Z","timestamp":1383868800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>Burkitt lymphoma (BL) is an aggressive mature B-cell neoplasm. The cytogenetic hallmark are &lt;i&gt;MYC&lt;\/i&gt;-involving translocations, most frequently as t(8;14)(q24;q32). Additional cytogenetic abnormalities are seen in the majority of cases. The most frequent additional aberration involves the long arm of chromosome 1, either as partial or complete trisomy 1q. A very rare additional aberration is a supernumerary isochromosome 1q, i(1)(q10), resulting in tetrasomy 1q. The biological significance of this aberration is unclear. We present a highly aggressive case of BL in a child with immature B-cell immunophenotype (IP) and supernumerary i(1)(q10). Diagnostic karyotyping showed 47,XY,+i(1)(q10),t(8;14)(q24;q32)[2]\/47,idem,del(15)(q24)[21]\/46,XY[2]. aCGH analysis detected a gain of 1p12qter and a loss of 15q22q25. FISH analysis confirmed the isodicentric chromosome 1, which has not previously been reported in BL. In the literature, supernumerary i(1)(q10) was found in 11 cases of which &gt;80% presented with immature B-cell IP and &gt;60% relapsed or died. Tetrasomy 1q resulting from supernumerary idic(1)(p12) or i(1)(q10) is a rare genetic event in BL and probably associated with immature B-cell IP. We propose that high amplification of genes on chromosome 1p12qter may contribute to the BL IP and disease progression.<\/jats:p>","DOI":"10.1159\/000355985","type":"journal-article","created":{"date-parts":[[2013,11,8]],"date-time":"2013-11-08T07:51:01Z","timestamp":1383897061000},"page":"7-13","source":"Crossref","is-referenced-by-count":10,"title":["Supernumerary Isochromosome 1, idic(1)(p12), Leading to Tetrasomy 1q in Burkitt Lymphoma"],"prefix":"10.1159","volume":"142","author":[{"given":"A.S.","family":"Roug","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Wendtland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Bendix","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Kjeldsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2013,11,8]]},"reference":[{"doi-asserted-by":"publisher","key":"ref1","DOI":"10.1002\/gcc.20831"},{"doi-asserted-by":"publisher","key":"ref2","DOI":"10.1086\/380648"},{"doi-asserted-by":"publisher","key":"ref3","DOI":"10.1002\/gcc.20179"},{"doi-asserted-by":"publisher","key":"ref4","DOI":"10.1002\/hon.916"},{"doi-asserted-by":"publisher","key":"ref5","DOI":"10.1016\/0165-4608(88)90313-5"},{"doi-asserted-by":"publisher","key":"ref6","DOI":"10.1016\/j.cancergencyto.2010.10.005"},{"doi-asserted-by":"publisher","key":"ref7","DOI":"10.1073\/pnas.131568898"},{"doi-asserted-by":"publisher","key":"ref8","DOI":"10.1038\/sj.leu.2401587"},{"doi-asserted-by":"publisher","key":"ref9","DOI":"10.1111\/j.1365-2141.2009.07943.x"},{"doi-asserted-by":"publisher","key":"ref10","DOI":"10.1182\/blood-2007-11-120535"},{"doi-asserted-by":"publisher","key":"ref11","DOI":"10.1016\/j.cancergencyto.2006.07.005"},{"doi-asserted-by":"publisher","key":"ref12","DOI":"10.1093\/hmg\/ddm173"},{"doi-asserted-by":"publisher","key":"ref13","DOI":"10.1186\/1471-2407-8-199"},{"doi-asserted-by":"publisher","key":"ref14","DOI":"10.1038\/sj.leu.2403080"},{"doi-asserted-by":"publisher","key":"ref15","DOI":"10.4161\/cc.4.9.1985"},{"doi-asserted-by":"publisher","key":"ref16","DOI":"10.1002\/ajmg.a.35995"},{"doi-asserted-by":"publisher","key":"ref17","DOI":"10.1002\/gcc.10120"},{"doi-asserted-by":"publisher","key":"ref18","DOI":"10.1016\/j.leukres.2010.02.028"},{"doi-asserted-by":"publisher","key":"ref19","DOI":"10.1016\/S0145-2126(02)00271-0"},{"doi-asserted-by":"publisher","key":"ref20","DOI":"10.1002\/gcc.1189"},{"doi-asserted-by":"publisher","key":"ref21","DOI":"10.1097\/00043426-200403000-00006"},{"doi-asserted-by":"publisher","key":"ref22","DOI":"10.1158\/0008-5472.CAN-09-0773"},{"doi-asserted-by":"publisher","key":"ref23","DOI":"10.1093\/nar\/gks1048"},{"doi-asserted-by":"publisher","key":"ref24","DOI":"10.1111\/j.1365-2141.2011.09024.x"},{"doi-asserted-by":"publisher","key":"ref25","DOI":"10.1038\/sj.leu.2401244"},{"doi-asserted-by":"publisher","key":"ref26","DOI":"10.1002\/cncr.22089"},{"doi-asserted-by":"publisher","key":"ref27","DOI":"10.1038\/leu.2008.312"},{"doi-asserted-by":"publisher","key":"ref28","DOI":"10.3324\/haematol.2010.026831"},{"doi-asserted-by":"publisher","key":"ref29","DOI":"10.1016\/0165-4608(94)00101-G"},{"doi-asserted-by":"publisher","key":"ref30","DOI":"10.1371\/journal.pone.0007089"},{"doi-asserted-by":"publisher","key":"ref31","DOI":"10.3109\/10428194.2011.593274"},{"doi-asserted-by":"publisher","key":"ref32","DOI":"10.1038\/leu.2012.367"},{"doi-asserted-by":"publisher","key":"ref33","DOI":"10.1136\/jcp.44.1.48"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/355985","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/355985","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:14:33Z","timestamp":1745432073000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000355985"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11,8]]},"references-count":33,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2013,12,1]]},"published-print":{"date-parts":[[2013,12,20]]}},"URL":"https:\/\/doi.org\/10.1159\/000355985","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.5125756","asserted-by":"subject"}]},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2013,11,8]]}}}