{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T12:52:53Z","timestamp":1762865573409},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2009,8,13]],"date-time":"2009-08-13T00:00:00Z","timestamp":1250121600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2010,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Little is known about the cytogenetic features and molecular mechanisms behind hairy cell leukaemia (HCL), despite the advances in diagnosis and treatment. Therefore, we used high\u2010resolution genome\u2010wide array\u2010based comparative genomic hybridisation (array\u2010CGH) and multiplex ligation\u2010dependent probe amplification (MLPA) to characterise copy number alterations (CNAs) in DNA from 13 cases of HCL. We also summarise CNAs and cytogenetic features in 109 HCL cases comprising our 13 cases and 96 cases from the literature. Genomic array\u2010CGH revealed imbalances in two out of 13 cases in addition to previously described copy number variants (CNVs) found in healthy individuals. In one case, a 700\u2003kb deletion of 20q11.22 was detected encompassing ten characterised genes, among them the <jats:italic>TP53INP2, DNCL2A<\/jats:italic> and <jats:italic>ITCH<\/jats:italic> genes. In the second case, trisomy 5, and a deletion of 5p15.2 encompassing a non\u2010characterised gene <jats:italic>AY328033<\/jats:italic> was found. Altogether only 20\/81 (25%) of all cases studied by CGH or gene dose array revealed CNAs. The most common recurrent deletions and breakpoints were 14q22\u201332 (33%), 6q25 (16%), 2p12 (10%), 22q11 (10%), 17p11\u201313 (10%), 7q32\u201336 (9%), 18q11\u201313 (7%), 1q32\u201344 (6%), 8p22\u201323 (6%) and 7q11 (6%). Trisomy 5 occurred in 15%. In addition, several other recurrent breakpoints were identified. Although a number of genomic imbalances were identified in the HCL samples, the genome appeared remarkably stable.<\/jats:p>","DOI":"10.1111\/j.1600-0609.2009.01334.x","type":"journal-article","created":{"date-parts":[[2009,8,13]],"date-time":"2009-08-13T09:10:55Z","timestamp":1250154655000},"page":"17-25","source":"Crossref","is-referenced-by-count":14,"title":["Characterisation of hairy cell leukaemia by tiling resolution array\u2010based comparative Genome hybridisation: a series of 13 cases and review of the literature"],"prefix":"10.1111","volume":"84","author":[{"given":"Ann","family":"Nordgren","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Corcoran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annika","family":"S\u00e4\u00e4f","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Bremer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanneke C.","family":"Kluin\u2010Nelemans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqueline","family":"Schoumans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Grand\u00e9r","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,12,11]]},"reference":[{"key":"e_1_2_7_2_2","first-page":"370","article-title":"Autopsy findings in hairy cell leukaemia","volume":"11","author":"Vardiman JW","year":"1984","journal-title":"Semin Oncol"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02685898"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2007.15.7420"},{"key":"e_1_2_7_5_2","first-page":"193","article-title":"Hairy cell leukaemia","volume":"142","author":"Fanta PT","year":"2008","journal-title":"Cancer Treat Res"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-4608(01)00415-0"},{"key":"e_1_2_7_7_2","doi-asserted-by":"crossref","first-page":"R14","DOI":"10.1093\/hmg\/ddg261","article-title":"Genomic microarrays in human genetic disease and cancer","volume":"12","author":"Albertson DG","year":"2003","journal-title":"Hum Mol Genet"},{"key":"e_1_2_7_8_2","unstructured":"MitelmanF JohanssonB MertensF.Mitelman database of chromosome aberrations in cancer2008;http:\/\/cgap.nci.nih.gov\/Chromosomes\/Mitelman."},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.2004.00243.x"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2264(199910)26:2<182::AID-GCC13>3.0.CO;2-Z"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2008.07106.x"},{"key":"e_1_2_7_12_2","doi-asserted-by":"crossref","first-page":"3134","DOI":"10.1182\/blood.V84.9.3134.3134","article-title":"Proliferation and cytogenetic analysis of hairy cell leukaemia upon stimulation via the CD40 antigen","volume":"84","author":"Kluin\u2010Nelemans HC","year":"1994","journal-title":"Blood"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkh700"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1086\/302998"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1086\/379977"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20438"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2006.06328.x"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2002-3-8-software0003"},{"key":"e_1_2_7_19_2","doi-asserted-by":"crossref","first-page":"3413","DOI":"10.1093\/bioinformatics\/bth418","article-title":"Analysis of array CGH data: from signal ratio to gain and loss of DNA regions","volume":"20","author":"Hup\u00e9 P","year":"2008","journal-title":"Bioinformatics"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.2144\/04373ST04"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-0505"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201975"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2264(199712)20:4<337::AID-GCC4>3.0.CO;2-2"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5911"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh315"},{"key":"e_1_2_7_26_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl436"},{"key":"e_1_2_7_27_2","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.1086\/518176","article-title":"Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients","volume":"80","author":"Miyazawa H","year":"2004","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_28_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2006.06066.x"},{"key":"e_1_2_7_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.leukres.2004.05.016"},{"key":"e_1_2_7_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-4608(01)00448-4"},{"key":"e_1_2_7_31_2","doi-asserted-by":"publisher","DOI":"10.2353\/jmoldx.2007.060088"},{"key":"e_1_2_7_32_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccr.2008.04.018"},{"key":"e_1_2_7_33_2","doi-asserted-by":"publisher","DOI":"10.1038\/nm1010"},{"key":"e_1_2_7_34_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M403221200"},{"key":"e_1_2_7_35_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(01)00787-9"},{"key":"e_1_2_7_36_2","doi-asserted-by":"publisher","DOI":"10.1097\/CJI.0b013e318159f797"},{"key":"e_1_2_7_37_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2006.03.006"},{"key":"e_1_2_7_38_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1209911"}],"container-title":["European Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1600-0609.2009.01334.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1600-0609.2009.01334.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T05:09:08Z","timestamp":1698728948000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1600-0609.2009.01334.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,12,11]]},"references-count":37,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,1]]}},"alternative-id":["10.1111\/j.1600-0609.2009.01334.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1600-0609.2009.01334.x","archive":["Portico"],"relation":{},"ISSN":["0902-4441","1600-0609"],"issn-type":[{"value":"0902-4441","type":"print"},{"value":"1600-0609","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,12,11]]}}}