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

Abstract 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 relate...

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Bibliographic Details
Published in:Leukemia research 2014-05, Vol.38 (5), p.537-544
Main Authors: Zemanova, Zuzana, Michalova, Kyra, Buryova, Halka, Brezinova, Jana, Kostylkova, Karla, Bystricka, Dagmar, Novakova, Milena, Sarova, Iveta, Izakova, Silvia, Lizcova, Libuse, Ransdorfova, Sarka, Krejcik, Zdenek, Merkerova, Michaela Dostalova, Dohnalova, Alena, Siskova, Magda, Jonasova, Anna, Neuwirtova, Radana, Cermak, Jaroslav
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Chromosome Deletion
Chromosomes, Human, Pair 5
Chromothripsis
Comparative Genomic Hybridization
Complex chromosomal aberrations
Deletion 5q
Female
Genome instability
Hematology, Oncology and Palliative Medicine
Humans
Karyotype
Male
Middle Aged
Myelodysplastic syndromes
Myelodysplastic Syndromes - genetics
Myelodysplastic Syndromes - mortality
Prognosis
Retrospective Studies
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Summary:Abstract 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).
ISSN:0145-2126
1873-5835
DOI:10.1016/j.leukres.2014.01.012