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Leuk Res. 2014 May;38(5):537-44. doi: 10.1016/j.leukres.2014.01.012. Epub 2014 Feb 3.

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

Author information

1
Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and First Faculty of Medicine, Charles University in Prague, Czech Republic. Electronic address: zuze@vfn.cz.
2
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.
3
Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and First Faculty of Medicine, Charles University in Prague, Czech Republic.
4
Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
5
Institute of Physiology, First Faculty of Medicine, Charles University in Prague, Czech Republic.
6
First Medical Department, General University Hospital and First Faculty of Medicine, Charles University in Prague, Czech Republic.

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).

KEYWORDS:

Chromothripsis; Complex chromosomal aberrations; Deletion 5q; Genome instability; Myelodysplastic syndromes

PMID:
24636338
DOI:
10.1016/j.leukres.2014.01.012
[Indexed for MEDLINE]
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