{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T06:52:26Z","timestamp":1763535146057},"reference-count":30,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,4,3]],"date-time":"2012-04-03T00:00:00Z","timestamp":1333411200000},"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":[[2012,6]]},"abstract":"Summary<\/jats:title>Hodgkin and Reed\/Sternberg (HRS) cells in classical H<\/jats:styled-content>odgkin lymphoma (cHL<\/jats:styled-content>) show constitutive activation of nuclear factor (NF<\/jats:styled-content>)\u2010\u03baB. Several genetic lesions contribute to this deregulated NF<\/jats:styled-content>\u2010\u03baB activity. Here, we analysed two further NF<\/jats:styled-content>\u2010\u03baB regulators for genetic lesions, the inhibitory factor TRAF<\/jats:styled-content>3 and the key signalling component of the alternative NF<\/jats:styled-content>\u2010\u03baB pathway, MAP<\/jats:styled-content>3K14 (NIK<\/jats:styled-content>). Single nucleotide polymorphism (SNP<\/jats:styled-content>) array analysis of cHL<\/jats:styled-content> cell lines revealed a uniparental disomy of the long arm of chromosome 14 associated with a biallelic deletion of TRAF<\/jats:styled-content>3<\/jats:italic> located on this chromosome in cell line U\u2010HO1. Cloning of the deletion breakpoint showed a 123\u00a0371 bp deletion. No inactivating mutations of TRAF<\/jats:styled-content>3<\/jats:italic> were found in six other cHL<\/jats:styled-content> cell lines or in microdissected HRS<\/jats:styled-content> cells from seven cHL<\/jats:styled-content>. However, in primary cHL<\/jats:styled-content> samples interphase cytogenetic analyses revealed signal patterns indicating monoallelic deletion of TRAF<\/jats:styled-content>3<\/jats:italic> in 3\/20 other cases. SNP<\/jats:styled-content> array analysis revealed a gain of copy number for MAP<\/jats:styled-content>3K14<\/jats:italic> in three cHL<\/jats:styled-content> cell lines. Gains of MAP<\/jats:styled-content>3K14<\/jats:italic> were detected in 5\/16 cases of primary cHL<\/jats:styled-content>. In conclusion, in rare instances, HRS<\/jats:styled-content> cells harbour inactivating mutations of the TRAF<\/jats:styled-content>3<\/jats:italic> gene and recurrently show gains of MAP<\/jats:styled-content>3K14<\/jats:italic>, indicating that more components of NF<\/jats:styled-content>\u2010\u03baB signalling show genetic lesions in HRS<\/jats:styled-content> cells than previously known.<\/jats:p>","DOI":"10.1111\/j.1365-2141.2012.09113.x","type":"journal-article","created":{"date-parts":[[2012,4,3]],"date-time":"2012-04-03T19:24:54Z","timestamp":1333481094000},"page":"702-708","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":88,"title":["Genetic lesions of the TRAF<\/scp>3<\/i> and MAP<\/scp>3K14<\/i> genes in classical H<\/scp>odgkin lymphoma"],"prefix":"10.1111","volume":"157","author":[{"given":"Claudia","family":"Otto","sequence":"first","affiliation":[{"name":"Institute of Cell Biology (Cancer Research) University of Duisburg\u2010Essen Medical School Essen"}]},{"given":"Maciej","family":"Giefing","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Christian\u2010Albrechts University Kiel & University Hospital Schleswig\u2010Holstein Campus Kiel Kiel Germany"},{"name":"Institute of Human Genetics Polish Academy of Sciences Poznan Poland"}]},{"given":"Anne","family":"Massow","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Christian\u2010Albrechts University Kiel & University Hospital Schleswig\u2010Holstein Campus Kiel Kiel Germany"}]},{"given":"Inga","family":"Vater","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Christian\u2010Albrechts University Kiel & University Hospital Schleswig\u2010Holstein Campus Kiel Kiel Germany"}]},{"given":"Stefan","family":"Gesk","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Christian\u2010Albrechts University Kiel & University Hospital Schleswig\u2010Holstein Campus Kiel Kiel Germany"}]},{"given":"Matthias","family":"Schlesner","sequence":"additional","affiliation":[{"name":"German Cancer Research Centre Division of Theoretical Bioinformatics Computational Oncology Group Heidelberg"}]},{"given":"Julia","family":"Richter","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Christian\u2010Albrechts University Kiel & University Hospital Schleswig\u2010Holstein Campus Kiel Kiel Germany"}]},{"given":"Wolfram","family":"Klapper","sequence":"additional","affiliation":[{"name":"Department of Pathology Haematopathology Section and Lymph Node Registry Kiel Germany"}]},{"given":"Martin\u2010Leo","family":"Hansmann","sequence":"additional","affiliation":[{"name":"Senckenberg Institute of Pathology University of Frankfurt Frankfurt\/Main Germany"}]},{"given":"Reiner","family":"Siebert","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Christian\u2010Albrechts University Kiel & University Hospital Schleswig\u2010Holstein Campus Kiel Kiel Germany"}]},{"given":"Ralf","family":"K\u00fcppers","sequence":"additional","affiliation":[{"name":"Institute of Cell Biology (Cancer Research) University of Duisburg\u2010Essen Medical School Essen"}]}],"member":"311","published-online":{"date-parts":[[2012,4,3]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccr.2007.07.004"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V87.10.4340.bloodjournal87104340"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI119849"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-08-3701"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20080809"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1202893"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V94.9.3129"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.1454"},{"key":"e_1_2_7_10_1","first-page":"549","article-title":"Genomic imbalances including amplification of the tyrosine kinase gene JAK2 in CD30+ Hodgkin cells","volume":"60","author":"Joos S.","year":"2000","journal-title":"Cancer Research"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.191.2.395"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature07969"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccr.2007.07.003"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/17.6.1700"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc2542"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.24502"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.2129"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M403286200"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.10399"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V99.4.1474"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)64197-1"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2011.309"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2009.149"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-06-359166"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20789"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20090528"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2009.010157"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-12-257345"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.immunol.021908.132641"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.1628"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0707959105"}],"container-title":["British Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2141.2012.09113.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-2141.2012.09113.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T11:57:23Z","timestamp":1700567843000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-2141.2012.09113.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,3]]},"references-count":30,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["10.1111\/j.1365-2141.2012.09113.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-2141.2012.09113.x","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"value":"0007-1048","type":"print"},{"value":"1365-2141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4,3]]},"assertion":[{"value":"2011-12-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2012-02-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2012-04-03","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}