{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T09:11:27Z","timestamp":1759741887964,"version":"3.40.4"},"reference-count":20,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"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":[[2019]]},"abstract":"Lipoblastoma is a rare benign neoplasm with overlapping histology with other lipomatous tumors. Genetic aberrations including translocations of 8q and splitting of the <i>PLAG1<\/i> probe leading to \u201cpromoter swapping\u201d and gains of chromosome 8 or <i>PLAG1<\/i> foci have been described in lipoblastoma. Here, we report 3 lipoblastomas revealing novel genetic aberrations involving <i>PLAG1<\/i>: a high level of <i>PLAG1 <\/i>amplification up to 50 copies in a 4-year-old girl with recurrence of a right flank mass, a partial deletion of <i>PLAG1<\/i> with the flanking junction breakpoints involving the 3\u2032<i>PLAG1 <\/i>and 5\u2032<i>HAS2<\/i> genes in a 17-month-old boy with a retroperitoneal mass, and an insertion of 2q31 into 8q11.2 and translocation of 8q to 2q with the latter translocated onto 12q leading to separation of the <i>PLAG1<\/i> FISH probe in a 5-year-old girl with a left back mass. Our novel cytogenetic findings further expand the mechanisms of <i>PLAG1<\/i> transcriptional upregulation in lipoblastoma pathogenesis.<\/jats:p>","DOI":"10.1159\/000503158","type":"journal-article","created":{"date-parts":[[2019,10,15]],"date-time":"2019-10-15T21:06:53Z","timestamp":1571173613000},"page":"81-87","source":"Crossref","is-referenced-by-count":6,"title":["Three Novel Aberrations Involving <b><i>PLAG1<\/i><\/b> Leading to Lipoblastoma in Three Different Patients: High Amplification, Partial Deletion, and a Unique Complex Rearrangement"],"prefix":"10.1159","volume":"159","author":[{"given":"Guoliang","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel A.","family":"Guzman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqueline R.","family":"Batanian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2019,10,16]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2008.01.017"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0400930101"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111\/his.12317"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2015.06.005"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2013.05.019"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)61771-3"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-08-2097"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/ng0297-170"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-09-3630"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.08.026"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.3800386"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2008.12.007"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2004.04.017"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2019.02.154"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1159\/000109616"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(86)90137-8"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1201660"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2015.11.004"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22170"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.10307"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/503158","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/503158","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:58:35Z","timestamp":1745423915000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000503158"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"references-count":20,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2019,12,16]]},"published-print":{"date-parts":[[2019,12,17]]}},"URL":"https:\/\/doi.org\/10.1159\/000503158","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2019]]}}}