{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,24]],"date-time":"2025-09-24T09:11:40Z","timestamp":1758705100873,"version":"3.40.4"},"reference-count":19,"publisher":"S. Karger AG","issue":"4","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":"Patients with childhood acute myeloid leukemia (AML) with complex karyotypes (CKs) have a dismal outcome. However, for patients with a <i>KMT2A<\/i> rearrangement (<i>KMT2A<\/i>-r), the prognosis appears to depend on the fusion partner gene rather than the karyotype structure. Thus, a precise characterization of <i>KMT2A<\/i>-r and the fusion partner genes, especially in CKs, is of interest for managing AML. We describe the clinical and molecular features of a child who presented with a large abdominal mass, AML, and a new CK, involving chromosomes 11, 16, and 19 leading to a <i>KMT2A-MLLT1<\/i> fusion and 2 extra copies of the <i>ELL<\/i> gene, thus resulting in the concurrent overexpression of <i>MLLT1 <\/i>and <i>ELL<\/i>. Molecular cytogenetic studies defined the karyotype as 47,XY,der(11)t(11;16)(q23.3;p11.2),der(16)t(16;19)(p11.2;p13.3),der(19)t(11;19)(q23.3;p13.3),+der(19)t(16;19)(16pter&#x2192;p11.2::19p13.3&#x2192;19q11::19p11&#x2192;19p13.3::16p11.2&#x2192;16pter). Array CGH revealed a gain of 30.5 Mb in the 16p13.3p11.2 region and a gain of 18.1 Mb in the 19p13.3p12 region. LDI-PCR demonstrated the <i>KMT2A-MLLT1<\/i> fusion. Reverse sequence analysis showed that the <i>MLLT1<\/i> gene was fused to the 16p11.2 region. RT-qPCR quantification revealed that <i>ELL<\/i> and <i>MLLT1<\/i> were overexpressed (4- and 10-fold, respectively). In summary, this is a pediatric case of AML presenting a novel complex t(11;16;19) variant with overexpression of <i>ELL<\/i> and <i>MLLT1<\/i>.<\/jats:p>","DOI":"10.1159\/000499640","type":"journal-article","created":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T21:00:33Z","timestamp":1555016433000},"page":"213-219","source":"Crossref","is-referenced-by-count":1,"title":["A New Complex Karyotype Involving a <b><i>KMT2A<\/i><\/b>-r Variant Three-Way Translocation in a Rare Clinical Presentation of a Pediatric Patient with Acute Myeloid Leukemia"],"prefix":"10.1159","volume":"157","author":[{"given":"Roberto R.","family":"Capela de Matos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela R.","family":"Ney Garcia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moneeb A.K.","family":"Othman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerson","family":"Moura Ferreira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joana B.","family":"Melo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabel M.","family":"Carreira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claus","family":"Meyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rolf","family":"Marschalek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine S.","family":"Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcelo G.P.","family":"Land","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Liehr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raul C.","family":"Ribeiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Luiza M.","family":"Silva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2019,4,12]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1195504"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.3390\/jcm4010127"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.9.5248"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2010.01.026"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1006\/meth.2001.1262"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.21.16.5678-5687.2001"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ardp.201400449"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404542"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2013.135"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2017.213"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/nrc2915"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminoncol.2008.04.007"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/hon.2299"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/357123"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1186\/s40164-016-0037-2"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2010.30.7405"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.5114\/wo.2016.65602"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2011.05.012"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038\/nature21687"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/499640","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/499640","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:30:13Z","timestamp":1745425813000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000499640"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"references-count":19,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2019,6,20]]},"published-print":{"date-parts":[[2019,6,25]]}},"URL":"https:\/\/doi.org\/10.1159\/000499640","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]]}}}