Journal
LEUKEMIA RESEARCH
Volume 38, Issue 5, Pages 537-544Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.leukres.2014.01.012
Keywords
Myelodysplastic syndromes; Complex chromosomal aberrations; Genome instability; Deletion 5q; Chromothripsis
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Funding
- Ministry of Health of the Czech Republic [RVO-VFN64165, UHKT 00023736]
- Czech Science Foundation [GACR P302/12/G157/1]
- Ministry of Education, Youth and Sports of the Czech Republic [PRVOUK-P27/LF1/1]
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MDS with complex chromosomal aberrations (CCA) are characterized by short survival and a high rate of transformation to AML. A comprehensive genome-wide analysis of bone-marrow cells of 157 adults with newly diagnosed MDS and CCA revealed a large spectrum of nonrandom genomic changes related to the advanced stages of MDS. Chromosome shattering, probably resulting from chromothripsis, was found in 47% of patients. Deleted chromosome 5 was unstable and often involved in different types of cryptic unbalanced rearrangements. No true monosomy 5 was observed. Patients with CCA involving deleted chromosome 5 had an extremely poor prognosis (median overall survival, 2 months). (C) 2014 Elsevier Ltd. All rights reserved.
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