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Involvement of deleted chromosome 5 in complex chromosomal aberrations in newly diagnosed myelodysplastic syndromes (MDS) is correlated with extremely adverse prognosis

Z. Zemanova, K. Michalova, H. Buryova, J. Brezinova, K. Kostylkova, D. Bystricka, M. Novakova, I. Sarova, S. Izakova, L. Lizcova, S. Ransdorfova, Z. Krejcik, MD. Merkerova, A. Dohnalova, M. Siskova, A. Jonasova, R. Neuwirtova, J. Cermak,

. 2014 ; 38 (5) : 537-44.

Language English Country England, Great Britain

Document type Journal Article, Research Support, Non-U.S. Gov't

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).

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$a MDS with complex chromosomal aberrations (CCA) are characterized by short survival and a high rate of transformation to AML. A comprehensive genome-wide analysis of bone-marrow cells of 157 adults with newly diagnosed MDS and CCA revealed a large spectrum of nonrandom genomic changes related to the advanced stages of MDS. Chromosome shattering, probably resulting from chromothripsis, was found in 47% of patients. Deleted chromosome 5 was unstable and often involved in different types of cryptic unbalanced rearrangements. No true monosomy 5 was observed. Patients with CCA involving deleted chromosome 5 had an extremely poor prognosis (median overall survival, 2 months).
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$a Michalova, Kyra $u Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and First Faculty of Medicine, Charles University in Prague, Czech Republic; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
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$a Dohnalova, Alena $u Institute of Physiology, First Faculty of Medicine, Charles University in Prague, Czech Republic.
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$a Siskova, Magda $u First Medical Department, General University Hospital and First Faculty of Medicine, Charles University in Prague, Czech Republic.
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$a Jonasova, Anna $u First Medical Department, General University Hospital and First Faculty of Medicine, Charles University in Prague, Czech Republic.
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$a Neuwirtova, Radana $u First Medical Department, General University Hospital and First Faculty of Medicine, Charles University in Prague, Czech Republic.
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$a Cermak, Jaroslav $u Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
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