{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T02:39:43Z","timestamp":1790649583799,"version":"4.1.0"},"reference-count":55,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,11,10]],"date-time":"2011-11-10T00:00:00Z","timestamp":1320883200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2012,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Previous cytogenetic studies of myeloid and acute lymphoblastic leukemias in children with Down syndrome (ML\u2010DS and DS\u2010ALL) have revealed significant differences in abnormality patterns between such cases and acute leukemias in general. Also, certain molecular genetic aberrations characterize DS\u2010related leukemias, such as <jats:italic>GATA1<\/jats:italic> mutations in ML\u2010DS and deregulation of the <jats:italic>CRLF2<\/jats:italic> gene in DS\u2010ALL. Whether microdeletions\/microduplications also vary between DS and non\u2010DS cases is presently unclear. To address this issue, we performed single nucleotide polymorphism array analyses of eight pediatric ML\u2010DS and 17 B\u2010cell precursor DS\u2010ALL. In the ML\u2010DS cases, a total of 29 imbalances (20 gains and nine losses) and two partial uniparental isodisomies (pUPDs) were detected. None of the 11 small (defined as &lt;10 Mb) imbalances were recurrent, nor were the pUPDs, whereas of the 18 large aberrations, three were recurrent\u2014dup(1q), +8 and +21. In contrast, several frequent changes were identified in the DS\u2010ALL cases, which harbored 82 imbalances (30 gains and 52 losses) and four pUPDs. Of the 40 large changes, 28 were gains and 12 losses, with +X, dup(Xq), dup(1q), del(7p), dup(8q), del(9p), dup(9p), del(12p), dup(17q), and +21 being recurrent. Of the 40 microdeletions identified, several targeted specific genes, with the following being repeatedly deleted: <jats:italic>BTG1<\/jats:italic> and <jats:italic>CDKN2A\/B<\/jats:italic> (29% of cases), <jats:italic>ETV6<\/jats:italic>, <jats:italic>IKZF1<\/jats:italic>, <jats:italic>PAX5<\/jats:italic> and <jats:italic>SERP2<\/jats:italic> (18%), and <jats:italic>BTLA<\/jats:italic>, <jats:italic>INPP4B<\/jats:italic>, <jats:italic>P2RY8<\/jats:italic>, and <jats:italic>RB1<\/jats:italic> (12%). Loss of the <jats:italic>SERP2<\/jats:italic> and <jats:italic>INPP4B<\/jats:italic> genes, encoding the stress\u2010associated endoplasmic reticulum protein family member 2 and the inositol polyphosphate 4\u2010phosphatase\u2010II, respectively, has previously never been implicated in leukemia. Although deletions of the other genes have been associated with ALL, the high frequency of <jats:italic>BTG1<\/jats:italic> loss is a novel finding. Such deletions may characterize a clinical subgroup of DS\u2010ALL, comprising mainly boys with a high median age. In conclusion, ML\u2010DS and DS\u2010ALL are genetically distinct, with mainly gains in ML\u2010DS and deletions in DS\u2010ALL. Furthermore, DS\u2010ALL is characterized by several recurrent gene deletions, with <jats:italic>BTG1<\/jats:italic> loss being particularly frequent. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20944","type":"journal-article","created":{"date-parts":[[2011,11,10]],"date-time":"2011-11-10T09:59:43Z","timestamp":1320919183000},"page":"196-206","source":"Crossref","is-referenced-by-count":20,"title":["High frequency of <i>BTG1<\/i> deletions in acute lymphoblastic leukemia in children with down syndrome"],"prefix":"10.1002","volume":"51","author":[{"given":"Catarina","family":"Lundin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"Hjorth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikael","family":"Behrendtz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Nordgren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"Palmqvist","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mette Klarskov","family":"Andersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Biloglav","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik","family":"Forestier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kajsa","family":"Paulsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertil","family":"Johansson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,11,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V97.12.3727"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61341-0"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(86)90429-0"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1208373"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-11-256131"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2010.177"},{"key":"e_1_2_6_8_1","first-page":"1677","article-title":"Myelodysplasia and acute myelogenous leukemia in Down's syndrome. 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