{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,2]],"date-time":"2026-03-02T18:59:50Z","timestamp":1772477990286,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,3,7]],"date-time":"2012-03-07T00:00:00Z","timestamp":1331078400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The chromosomal translocation t(12;21) resulting in the <jats:italic><jats:styled-content style=\"fixed-case\">ETV<\/jats:styled-content>6\/<jats:styled-content style=\"fixed-case\">RUNX<\/jats:styled-content>1<\/jats:italic> fusion gene is the most frequent structural cytogenetic abnormality among patients with childhood acute lymphoblastic leukaemia (<jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content>). We investigated 62 <jats:italic><jats:styled-content style=\"fixed-case\">ETV<\/jats:styled-content>6\/<jats:styled-content style=\"fixed-case\">RUNX<\/jats:styled-content>1<\/jats:italic>\u2010positive childhood <jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content> patients by single nucleotide polymorphism array to explore acquired copy number alterations (<jats:styled-content style=\"fixed-case\">CNA<\/jats:styled-content>s) at diagnosis. The mean number of <jats:styled-content style=\"fixed-case\">CNA<\/jats:styled-content>s was 2\u00b782 (range 0\u201314). Concordance with available <jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>\u2010band karyotyping and comparative genomic hybridization was 93%. Based on three major protein\u2010protein complexes disrupted by these <jats:styled-content style=\"fixed-case\">CNA<\/jats:styled-content>s, patients could be categorized into four distinct subgroups, defined by different underlying biological mechanisms relevant to the aetiology of childhood <jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content>. When recurrent <jats:styled-content style=\"fixed-case\">CNA<\/jats:styled-content>s were evaluated by an oncogenetic tree analysis classifying their sequential order, the most common genetic aberrations (deletions of 6q, 9p, 13q and X, and gains of 10 and 21) seemed independent of each other. Finally, we identified the most common regions with recurrent gains and losses, which comprise micro<jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content> clusters with known oncogenic or tumour\u2010suppressive roles. The present study sheds further light on the genetic diversity of <jats:italic><jats:styled-content style=\"fixed-case\">ETV<\/jats:styled-content>6\/<jats:styled-content style=\"fixed-case\">RUNX<\/jats:styled-content>1<\/jats:italic>\u2010positive childhood <jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content>, which may be important for understanding poor responses among this otherwise highly curable subset of <jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content> and lead to novel targeted treatment strategies.<\/jats:p>","DOI":"10.1111\/j.1365-2141.2012.09083.x","type":"journal-article","created":{"date-parts":[[2012,3,7]],"date-time":"2012-03-07T16:28:01Z","timestamp":1331137681000},"page":"476-482","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Genome\u2010wide analysis of cytogenetic aberrations in <i><scp>ETV<\/scp>6\/<scp>RUNX<\/scp>1<\/i>\u2010positive childhood acute lymphoblastic leukaemia"],"prefix":"10.1111","volume":"157","author":[{"given":"Louise","family":"Borst","sequence":"first","affiliation":[{"name":"Clinic for Paediatric and Adolescent Medicine, The Juliane Marie Centre The University Hospital Rigshospitalet Copenhagen"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agata","family":"Wesolowska","sequence":"additional","affiliation":[{"name":"Centre for Biological Sequence Analysis The Technical University of Denmark Kgs. Lyngby"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tejal","family":"Joshi","sequence":"additional","affiliation":[{"name":"Centre for Biological Sequence Analysis The Technical University of Denmark Kgs. Lyngby"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rehannah","family":"Borup","sequence":"additional","affiliation":[{"name":"Centre for Genomic Medicine The University Hospital Rigshospitalet Copenhagen"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Finn C.","family":"Nielsen","sequence":"additional","affiliation":[{"name":"Centre for Genomic Medicine The University Hospital Rigshospitalet Copenhagen"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mette K.","family":"Andersen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, The Juliane Marie Centre The University Hospital Rigshospitalet Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olafur G.","family":"Jonsson","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University Hospital Reykjavik Iceland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peder S.","family":"Wehner","sequence":"additional","affiliation":[{"name":"Department of Paediatric Haematology and Oncology, H. 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