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. 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

Zuzana Zemanova  1 , Kyra Michalova  2 , Halka Buryova  3 , Jana Brezinova  4 , Karla Kostylkova  3 , Dagmar Bystricka  3 , Milena Novakova  3 , Iveta Sarova  4 , Silvia Izakova  3 , Libuse Lizcova  3 , Sarka Ransdorfova  4 , Zdenek Krejcik  4 , Michaela Dostalova Merkerova  4 , Alena Dohnalova  5 , Magda Siskova  6 , Anna Jonasova  6 , Radana Neuwirtova  6 , Jaroslav Cermak  4
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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

Zuzana Zemanova et al. Leuk Res. 2014 May.

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.

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