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We studied genomic changes associated with these transformations in 29 patients who had serial samples collected in different phases of disease. Genomic DNA from granulocytes, i.e., the myeloproliferative genome, was processed and hybridized to genome\u2010wide human SNP 6.0 arrays. Most patients in chronic phase had chromosomal regions with uniparental disomy (UPD) and\/or copy number changes. Disease progression to secondary MF or AML was associated with the acquisition of additional chromosomal aberrations in granulocytes (<jats:italic>P<\/jats:italic> = 0.002). A close relationship was observed between aberrations of chromosome 9p (UPD and\/or gain) and progression from PV to post\u2010PV MF (<jats:italic>P<\/jats:italic> = 0.002). The acquisition of one or more aberrations involving chromosome 5, 7, or 17p was specifically associated with progression to AML (OR 5.9, 95% CI 1.2\u201327.7, <jats:italic>P<\/jats:italic> = 0.006), and significantly affected overall survival (HR 18, 95% CI 1.9\u2013164, <jats:italic>P<\/jats:italic> = 0.01). These observations indicate that disease progression from chronic\u2010phase MPN to secondary MF or AML is associated with specific chromosomal aberrations that can be detected by means of high\u2010resolution SNP array analysis of granulocyte DNA. Am. J. Hematol. 2011. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.22166","type":"journal-article","created":{"date-parts":[[2011,8,9]],"date-time":"2011-08-09T16:59:55Z","timestamp":1312909195000},"page":"974-979","source":"Crossref","is-referenced-by-count":40,"title":["Identification of genomic aberrations associated with disease transformation by means of high\u2010resolution SNP array analysis in patients with myeloproliferative 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