{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:33:15Z","timestamp":1790695995595,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,2,3]],"date-time":"2014-02-03T00:00:00Z","timestamp":1391385600000},"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":[[2014,5]]},"abstract":"<jats:p>We analyzed 1,200 patients with acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) harboring a 5q deletion in order to clarify whether the type of 5q loss is associated with other biological markers and prognosis. We investigated all patients by chromosome banding analysis, FISH with a probe for <jats:italic>EGR1<\/jats:italic> (5q31) and, if necessary, to resolve complex karyotypes with 24\u2010color\u2010FISH. Moreover, 420 patients were analyzed for mutations in the <jats:italic>TP53<\/jats:italic> gene. The patient cohort was subdivided based on type of 5q loss: Patients with interstitial deletions and patients with 5q loss due to unbalanced rearrangements or monosomy 5. Loss of the long arm of chromosome 5 due to an unbalanced rearrangement occurred more often in AML (286\/627; 45.6%) than MDS (188\/573; 32.8%; <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001). In both entities, patients with 5q loss due to unbalanced translocations showed complex karyotypes more frequently (MDS: 179\/188; 95.2% vs. 124\/385; 32.2%; <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001; AML: 274\/286; 95.8% vs. 256\/341; 75.1%; <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001). Moreover, in MDS unbalanced 5q translocations were associated with clonal evolution (109\/188; 58.0% vs. 124\/385; 32.2%; <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001), mutation of <jats:italic>TP53<\/jats:italic> (64\/67; 95.5% vs. 40\/120; 40.0%; <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001), and shorter survival (15.3 months vs. not reached; <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001). In MDS, complex karyotype was an independent adverse prognostic factor (HR\u2009=\u20095.34; <jats:italic>P<\/jats:italic>\u2009=\u20090.032), whereas in AML presence of <jats:italic>TP53<\/jats:italic> mutations was the strongest adverse prognostic factor (HR\u2009=\u20092.21; <jats:italic>P<\/jats:italic>\u2009=\u20090.026). In conclusion, in AML and MDS, loss of the long arm of chromosome 5 due to unbalanced translocations is associated with complex karyotype and in MDS, moreover, with clonal evolution, mutations in the <jats:italic>TP53<\/jats:italic> gene and adverse prognosis. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/gcc.22151","type":"journal-article","created":{"date-parts":[[2014,2,4]],"date-time":"2014-02-04T03:17:24Z","timestamp":1391483844000},"page":"402-410","source":"Crossref","is-referenced-by-count":56,"title":["Association of the type of 5q loss with complex karyotype, clonal evolution, <i>TP53<\/i> mutation status, and prognosis in acute myeloid leukemia and myelodysplastic syndrome"],"prefix":"10.1002","volume":"53","author":[{"given":"Sarah","family":"Volkert","sequence":"first","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":"Susanne","family":"Schnittger","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 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