{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:24:19Z","timestamp":1790418259131,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,3,11]],"date-time":"2014-03-11T00:00:00Z","timestamp":1394496000000},"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":[[2014,6]]},"abstract":"<jats:p>B lymphoblastic leukemia\/lymphoma (ALL) are subdivided by the WHO classification into five subgroups defined by specific translocations and two further subgroups defined by the number of chromosomes. The hypodiploid subgroup is heterogeneous and comprises ALL with a chromosome number of &lt;46. To characterize a specific subset with low hypodiploid karyotype, we performed chromosome banding analysis, FISH, array comparative genomic hybridization, and mutational analyses of <jats:italic>FBXW7<\/jats:italic>, <jats:italic>NOTCH1<\/jats:italic>, <jats:italic>KRAS<\/jats:italic>, <jats:italic>NRAS<\/jats:italic>, <jats:italic>TP53<\/jats:italic>, and <jats:italic>IKZF1<\/jats:italic> in 29 cases. We observed a nonrandom pattern of chromosome losses, including chromosomes 3, 7, 13, 15, 16, and 17. A deletion encompassing the <jats:italic>CDKN2A\/B<\/jats:italic> locus was the only recurrent structural abnormality. A duplication of the low hypodiploid karyotype occurred frequently, resulting in a near triploid karyotype based on the definition by merely counting chromosomes but in fact was a very low tetraploid chromosome set. Mutational analyses revealed no mutations in <jats:italic>IKZF1<\/jats:italic>, <jats:italic>FBXW7, NOTCH1<\/jats:italic>, and <jats:italic>KRAS<\/jats:italic> and only one mutation in <jats:italic>NRAS<\/jats:italic>. However, we discovered a high frequency of <jats:italic>TP53<\/jats:italic> mutations in 93% (27\/29) of cases. In 26\/27 cases with <jats:italic>TP53<\/jats:italic> mutation, the second <jats:italic>TP53<\/jats:italic> allele was lost due to monosomy 17. Median overall survival was short (18.5 months), which might be related to the high frequency of <jats:italic>TP53<\/jats:italic> alterations. Therefore, ALL with low hypodiploidy is characterized by a typical pattern of chromosome losses and a remarkably high <jats:italic>TP53<\/jats:italic> mutation frequency. Our data suggest the introduction of a novel WHO entity within the B lymphoblastic leukemia\/lymphoma group showing low hypodiploid\/very low tetraploid karyotype and concomitant <jats:italic>TP53<\/jats:italic> mutation. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/gcc.22163","type":"journal-article","created":{"date-parts":[[2014,3,11]],"date-time":"2014-03-11T11:34:53Z","timestamp":1394537693000},"page":"524-536","source":"Crossref","is-referenced-by-count":89,"title":["Acute lymphoblastic leukemia with low hypodiploid\/near triploid karyotype is a specific clinical entity and exhibits a very high <i>TP53<\/i> mutation frequency of 93%"],"prefix":"10.1002","volume":"53","author":[{"given":"Verena","family":"M\u00fchlbacher","sequence":"first","affiliation":[{"name":"MLL Munich Leukemia Laboratory  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Zenger","sequence":"additional","affiliation":[{"name":"MLL Munich Leukemia Laboratory  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Schnittger","sequence":"additional","affiliation":[{"name":"MLL Munich Leukemia Laboratory  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Weissmann","sequence":"additional","affiliation":[{"name":"MLL Munich Leukemia Laboratory  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franziska","family":"Kunze","sequence":"additional","affiliation":[{"name":"MLL Munich Leukemia Laboratory  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Kohlmann","sequence":"additional","affiliation":[{"name":"MLL Munich Leukemia Laboratory  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frauke","family":"Bellos","sequence":"additional","affiliation":[{"name":"MLL Munich Leukemia Laboratory  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Kern","sequence":"additional","affiliation":[{"name":"MLL Munich Leukemia Laboratory  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Torsten","family":"Haferlach","sequence":"additional","affiliation":[{"name":"MLL Munich Leukemia Laboratory  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Haferlach","sequence":"additional","affiliation":[{"name":"MLL Munich Leukemia Laboratory  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,3,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-10-184069"},{"key":"e_1_2_5_3_1","first-page":"1783","article-title":"Proposals for the immunological classification of acute leukemias. European Group for the Immunological Characterization of Leukemias (EGIL)","volume":"9","author":"Bene MC","year":"1995","journal-title":"Leukemia"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-04-1299"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2012.076786"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V91.11.3995"},{"key":"e_1_2_5_7_1","doi-asserted-by":"crossref","first-page":"296a","DOI":"10.1182\/blood.V116.21.296.296","article-title":"Analyses of 81 Chronic Myelomonocytic Leukemia (CMML) for EZH2, TET2, ASXL1, CBL, KRAS, NRAS, RUNX1, IDH1, IDH2, and NPM1 Revealed Mutations In 86.4% of All Patients with TET2 and EZH2 Being of High Prognostic Relevance","volume":"116","author":"Grossmann V","year":"2010","journal-title":"Blood"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2010.298"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22039"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1468-0734.2002.00069.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2004.04948.x"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20451"},{"key":"e_1_2_5_13_1","volume-title":"Cancer Cytogenetics","author":"Heim S","year":"2009"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2532"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-08-173963"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-03-1036"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2011.155"},{"key":"e_1_2_5_18_1","volume-title":"Atlas of Clinical Hematology","author":"L\u00f6ffler H","year":"2010"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.21947"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-08-231217"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-10-051912"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2009.012047"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation.V2012.1.389.3798360"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05690"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0808253"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-07-038299"},{"key":"e_1_2_5_27_1","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1182\/blood.V80.1.203.203","article-title":"Formation of a hyperdiploid karyotype in childhood acute lymphoblastic leukemia","volume":"80","author":"Onodera N","year":"1992","journal-title":"Blood"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20671"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V75.5.1170.1170"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V76.8.1449.1449"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra023001"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2012.227"},{"key":"e_1_2_5_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11912-002-0032-0"},{"key":"e_1_2_5_34_1","volume-title":"ISCN 2013: an international system for human cytogenetic nomenclature","author":"Shaffer LG","year":"2013"},{"key":"e_1_2_5_35_1","volume-title":"WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues","author":"Swerdlow SH","year":"2008"},{"key":"e_1_2_5_36_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V82.10.3163.3163"},{"key":"e_1_2_5_37_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1102160"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.22163","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.22163","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T04:39:50Z","timestamp":1696567190000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.22163"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,11]]},"references-count":36,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,6]]}},"alternative-id":["10.1002\/gcc.22163"],"URL":"https:\/\/doi.org\/10.1002\/gcc.22163","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,11]]}}}