{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T05:55:33Z","timestamp":1791093333090,"version":"4.1.0"},"reference-count":57,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"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":[[2013,10]]},"abstract":"<jats:p><jats:italic>BMI1<\/jats:italic>, a Polycomb\u2010group gene located at 10p12.2, is implicated in the pathogenesis of a variety of tumors. However, the genetic molecular mechanisms underlying its aberrant expression in cancer cells remain largely unknown. In this study, we show that <jats:italic>BMI1<\/jats:italic> is recurrently targeted by chromosomal aberrations in B\u2010cell leukemia\/lymphoma. We identified a novel t(10;14)(p12;q32)\/<jats:italic>IGH\u2010BMI1<\/jats:italic> rearrangement and its <jats:italic>IGL<\/jats:italic> variant in six cases of chronic lymphocytic leukemia (CLL) and found that these aberrations were consistently acquired at time of disease progression and high grade transformation of leukemia (Richter syndrome). The <jats:italic>IG\u2010BMI1<\/jats:italic> translocations were not associated with any particular molecular subtype of CLL and the leukemias were negative for common mutations of <jats:italic>NOTCH1<\/jats:italic> and <jats:italic>TP53<\/jats:italic>, known to increase a risk of progression and transformation in CLL. In addition, using FISH and SNP array analysis, we identified a wide range of <jats:italic>BMI1<\/jats:italic>\u2010involving 10p12 lesions in 17 cases of mantle cell lymphoma (MCL). These aberrations included various balanced and unbalanced structural abnormalities and very frequently but not exclusively, were associated with gain of the <jats:italic>BMI1<\/jats:italic> locus and loss of the 10p terminal sequences. These findings point to genomic instability at the 10p region in MCL which likely promotes rearrangements and deregulation of <jats:italic>BMI1<\/jats:italic>. Our findings are in line with previously published observations correlating overexpression of <jats:italic>BMI1<\/jats:italic> with tumor progression and chemoresistance. In summary, our study provides new insights into genetic molecular mechanisms underlying aberrant expression of <jats:italic>BMI1<\/jats:italic> in lymphoma and documents its contribution in the pathogenesis of Richter syndrome and MCL. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/gcc.22088","type":"journal-article","created":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T16:03:02Z","timestamp":1374249782000},"page":"928-944","source":"Crossref","is-referenced-by-count":27,"title":["<i>BMI1<\/i>, The polycomb\u2010group gene, is recurrently targeted by genomic rearrangements in progressive B\u2010cell leukemia\/lymphoma"],"prefix":"10.1002","volume":"52","author":[{"given":"Leila","family":"Rouhigharabaei","sequence":"first","affiliation":[{"name":"Center for Human Genetics, Katholieke Universiteit Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julio Finalet","family":"Ferreiro","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, Katholieke Universiteit Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Put","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, Katholieke Universiteit Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucienne","family":"Michaux","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, Katholieke Universiteit Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Tousseyn","sequence":"additional","affiliation":[{"name":"Department of Imaging and Pathology Translational Cell and Tissue Research, KU Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Lefebvre","sequence":"additional","affiliation":[{"name":"Department of Oncogenetic Centre Hospitalier Universitaire Albert Michallon Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Gardiner","sequence":"additional","affiliation":[{"name":"Department of Hematology Royal Bournemouth Hospital Bournemouth UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wim","family":"De Kelver","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, Katholieke Universiteit Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilde","family":"Demuynck","sequence":"additional","affiliation":[{"name":"Department of Hematology Hospital of Roeselare  Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan","family":"Verschuere","sequence":"additional","affiliation":[{"name":"Department of Hematology Hospital of Ronse  Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan","family":"Th\u00e9ate","sequence":"additional","affiliation":[{"name":"Department of Pathology Cliniques Universitaires Saint\u2010Luc Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Vicente","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, Katholieke Universiteit Leuven Leuven Belgium"},{"name":"Center for the Biology of Disease, Vlaams Intituut voor Biotechnologie Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Vandenberghe","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, Katholieke Universiteit Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Cools","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, Katholieke Universiteit Leuven Leuven Belgium"},{"name":"Center for the Biology of Disease, Vlaams Intituut voor Biotechnologie Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iwona","family":"Wlodarska","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, Katholieke Universiteit Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,7,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/35000501"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/hon.812"},{"key":"e_1_2_6_4_1","first-page":"2409","article-title":"BMI\u20101 gene amplification and overexpression in hematological malignancies occur mainly in mantle cell lymphomas","volume":"61","author":"Bea S","year":"2001","journal-title":"Cancer Res"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-008-0603-8"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1349-7006.2011.02121.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.23234"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404623"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V99.5.1776"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-10-388124"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200012283432602"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20110921"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0600069103"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90383-A"},{"key":"e_1_2_6_15_1","first-page":"3161","article-title":"bmi\u20101 transgene induces lymphomas and collaborates with myc in tumorigenesis","volume":"8","author":"Haupt Y","year":"1993","journal-title":"Oncogene"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2009.165"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/16476"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.13.20.2678"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2009.010298"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2006.10.025"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1349-7006.2011.01891.x"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.587"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-11-391474"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2006.02.043"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01572"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M602461200"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.10169"},{"key":"e_1_2_6_28_1","first-page":"1346","article-title":"Construction of antisense Bmi\u20101 expression plasmid and its inhibitory effect on K562 cells proliferation","volume":"118","author":"Meng XX","year":"2005","journal-title":"Chin Med J (Engl)"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-4608(96)00247-6"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-06-2393"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-12-065599"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2010.22"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01587"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10113"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-011-1393-y"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1471-4906(03)00241-2"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1471-4906(01)02082-8"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02723"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-02-270660"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/hon.880"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-09-379966"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-10-3907"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/0145-2126(90)90167-8"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2010.08.002"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1002\/hon.932"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/stem.1035"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-06-0788"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI39374"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.8.14.9103"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2012.016"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.2006.038752"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V97.12.3896"},{"key":"e_1_2_6_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90382-9"},{"key":"e_1_2_6_54_1","doi-asserted-by":"publisher","DOI":"10.5732\/cjc.009.10707"},{"key":"e_1_2_6_55_1","first-page":"409","article-title":"Knockdown of the Bmi\u20101 oncogene inhibits cell proliferation and induces cell apoptosis and is involved in the decrease of Akt phosphorylation in the human breast carcinoma cell line MCF\u20107","volume":"25","author":"Xu Z","year":"2011","journal-title":"Oncol Rep"},{"key":"e_1_2_6_56_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-11-366062"},{"key":"e_1_2_6_57_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20072000"},{"key":"e_1_2_6_58_1","doi-asserted-by":"publisher","DOI":"10.1089\/oli.2007.0070"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.22088","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.22088","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T05:33:54Z","timestamp":1696570434000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.22088"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,19]]},"references-count":57,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["10.1002\/gcc.22088"],"URL":"https:\/\/doi.org\/10.1002\/gcc.22088","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,19]]}}}