{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:17:24Z","timestamp":1791274644802,"version":"4.1.0"},"reference-count":38,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2001,3,7]],"date-time":"2001-03-07T00:00:00Z","timestamp":983923200000},"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":[[2001,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gene amplification is a rare phenomenon in acute leukemia, but recently amplification of specific chromosome bands containing genes rearranged in leukemia\u2010specific balanced chromosome translocations has been reported in a few cases. We detected duplication or amplification of chromosome band 11q23 with 3\u20137 copies of the <jats:italic>MLL<\/jats:italic> gene by fluorescence in situ hybridization in 12 out of 70 unselected patients with therapy\u2010related myelodysplasia or acute myeloid leukemia (17%). In all but one case, the supernumerary copies of <jats:italic>MLL<\/jats:italic> were located to previously unidentified marker chromosomes or unbalanced translocations. In 4 of the 12 patients, 2\u20136 copies were located together on the same chromosome arm representing amplification, 7 patients had single, extra duplicated copies of <jats:italic>MLL<\/jats:italic>, whereas both amplification and duplication were observed in the same cell in 1 patient. Comparative genomic hybridization demonstrated gain of varying, often large parts of 11q in five patients. The <jats:italic>MLL<\/jats:italic> gene was shown to be unrearranged in all 12 patients. Seven out of eight patients with duplication or amplification of <jats:italic>MLL<\/jats:italic> had mutations of <jats:italic>TP53<\/jats:italic>. Patients with supernumerary copies of <jats:italic>MLL<\/jats:italic> were in general older (<jats:italic>P<\/jats:italic> = 0.007) and had a shorter survival (<jats:italic>P<\/jats:italic> &lt; 0.001) compared to other patients. Duplication or amplification of <jats:italic>MLL<\/jats:italic> was significantly associated with a complex karyotype (<jats:italic>P<\/jats:italic> = 0.002), with deletion or loss of 5q (<jats:italic>P<\/jats:italic> = 0.001), and with prior therapy with alkylating agents. These results support the existence of a specific genetic pathway in t\u2010MDS and t\u2010AML with many previously unidentified chromosome aberrations demonstrated to represent extra copies of parts of 11q, including the unrearranged <jats:italic>MLL<\/jats:italic> gene. \u00a9 2001 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.1115","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T21:30:12Z","timestamp":1030311012000},"page":"33-41","source":"Crossref","is-referenced-by-count":94,"title":["Duplication or amplification of chromosome band 11q23, including the unrearranged <i>MLL<\/i> gene, is a recurrent abnormality in therapy\u2010related MDS and AML, and is closely related to mutation of the <i>TP53<\/i> gene and to previous therapy with alkylating agents"],"prefix":"10.1002","volume":"31","author":[{"given":"Mette 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