{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T00:51:05Z","timestamp":1790988665069,"version":"4.1.0"},"reference-count":47,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2012,5,23]],"date-time":"2012-05-23T00:00:00Z","timestamp":1337731200000},"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;amp; Cancer"],"published-print":{"date-parts":[[2012,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Chronic lymphocytic leukemia (CLL) is the most common leukemia among adults in Western countries. Chromosomal abnormalities commonly found using conventional cytogenetics and FISH are del(11)(q22\u201023), trisomy 12, del(13)(q14), and del(17)(p13). Trisomy 12 is the most frequent numerical abnormality in CLL. It can appear isolated or associated with other chromosomal aberrations, including t(14;18)(q32;q21) and trisomy 18. The aim of this study was to determine whether CLL patients with isolated trisomy 12 or associated with other chromosomal alterations have different clinico\u2010pathological features, including a different distribution <jats:italic>NOTCH1<\/jats:italic> mutation. Patients were classified into four groups: Group 1, isolated trisomy 12 (<jats:italic>n<\/jats:italic> = 14); Group 2, trisomy 12 plus trisomy 18 (<jats:italic>n<\/jats:italic> = 4); Group 3, trisomy 12 plus t(14;18) (<jats:italic>n<\/jats:italic> = 8); and Group 4: patients with trisomy 12 plus other abnormalities not involving <jats:italic>BCL2<\/jats:italic> (<jats:italic>n<\/jats:italic> = 28). The Binet stage and expression of <jats:italic>ZAP70<\/jats:italic> were significantly different among cytogenetic groups. <jats:italic>NOTCH1<\/jats:italic> mutations were detected in 6\/12 (50%) patients from Group 1, 4\/25 (16%) patients from Group 4, and in no patient from groups 2 and 3 (<jats:italic>P<\/jats:italic> = 0.020). Patients in Group 2 had a more rapid disease progression (median Treatment\u2010free Survival 2 months) as against patients from Groups 1 (50 months), 3 (69 months), or 4 (68 months; <jats:italic>P<\/jats:italic> = 0.001). These findings indicate that the distribution of <jats:italic>NOTCH1<\/jats:italic> mutations in CLL with trisomy 12 is heterogeneous and that the presence of additional chromosomal abnormalities such as trisomy 18 could change the prognosis of these patients. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/gcc.21972","type":"journal-article","created":{"date-parts":[[2012,5,23]],"date-time":"2012-05-23T14:56:41Z","timestamp":1337785001000},"page":"881-889","source":"Crossref","is-referenced-by-count":50,"title":["Different distribution of <i>NOTCH1<\/i> mutations in chronic lymphocytic leukemia with isolated trisomy 12 or associated with other chromosomal alterations"],"prefix":"10.1002","volume":"51","author":[{"given":"Cristina","family":"L\u00f3pez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julio","family":"Delgado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dolors","family":"Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Conde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela","family":"Ghita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neus","family":"Villamor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alba","family":"Navarro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maite","family":"Cazorla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e1ndida","family":"G\u00f3mez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amparo","family":"Arias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Concha","family":"Mu\u00f1oz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tycho","family":"Baumann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Rozman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Aymerich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dolors","family":"Colomer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesc","family":"Cobo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u00edas","family":"Campo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Armando","family":"L\u00f3pez\u2010Guillermo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emili","family":"Montserrat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Carri\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,5,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2006.02.001"},{"key":"e_1_2_6_3_1","unstructured":"Atlas of Genetics and Cytogenetics in Oncology and Haematology. URLhttp:\/\/AtlasGeneticsOncology.org"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-10-386144"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2008.07227.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V87.12.4990.bloodjournal87124990"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc883"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa023143"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2011.060129"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.3109\/10428190903350421"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-02-005322"},{"key":"e_1_2_6_12_1","first-page":"769","article-title":"Genomic abnormalities in chronic lymphocytic leukemia influence gene expression by a gene dosage effect","volume":"17","author":"Dickinson JD","year":"2006","journal-title":"Int J Mol Med"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-4608(96)00246-4"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s001090050350"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200012283432602"},{"key":"e_1_2_6_16_1","doi-asserted-by":"crossref","first-page":"3682","DOI":"10.1182\/blood.V83.12.3682.3682","article-title":"BCL2 translocations in leukaemia of Mature B cells","volume":"83","author":"Dyer MJS","year":"1994","journal-title":"Blood"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20110921"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcp\/105.4.458"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404935"},{"key":"e_1_2_6_20_1","first-page":"2140","article-title":"Cytogenetic analysis of B cell chronic lymphoid leukemias classified according to morphologic and immunophenotypic (FAB) criteria","volume":"9","author":"Hernandez JM","year":"1995","journal-title":"Leukemia"},{"key":"e_1_2_6_21_1","volume-title":"SEER Cancer Statistics Review, 1975\u20132008","author":"Howlader N","year":"2011"},{"key":"e_1_2_6_22_1","unstructured":"2009 S. Basel Karger ISCN LG Shaffer ML Slovak LJ Campbell An International System for Human Cytogenetic Nomenclature"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-5710(97)00110-2"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2008.04.017"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2009.08.021"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404695"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1996.d01-1478.x"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beha.2007.03.001"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1309\/21TN2RUWKR827UW2"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2005.05548.x"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2004.04898.x"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404739"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10113"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2009.44"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1032"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2005.05919.x"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2010.08255.x"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-09-379966"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199510193331606"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-05-282632"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0304717101"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2007.06636.x"},{"key":"e_1_2_6_43_1","doi-asserted-by":"crossref","first-page":"1543","DOI":"10.5858\/2002-126-1543-CLLWTA","article-title":"Chronic lymphocytic leukemia with t(14;18) and trisomy 12","volume":"126","author":"Sen F","year":"2002","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_6_44_1","article-title":"Characteristics of chronic lymphocytic leukemia with somatically acquired mutations in NOTCH1 exon 34","author":"Shedden K","year":"2011","journal-title":"Leukemia."},{"key":"e_1_2_6_45_1","volume-title":"WHO classification of tumors of hematopoietic and lymphoid tissues","author":"Swerdlow SH","year":"2008"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2008.05.003"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404764"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1109016"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.21972","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.21972","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T04:40:46Z","timestamp":1700541646000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.21972"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,23]]},"references-count":47,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2012,9]]}},"alternative-id":["10.1002\/gcc.21972"],"URL":"https:\/\/doi.org\/10.1002\/gcc.21972","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,5,23]]}}}