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

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

doi:10.1016/j.leukres.2014.01.012

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

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

Authors

Zuzana Zemanova¹, Kyra Michalova², Halka Buryova³, Jana Brezinova⁴, Karla Kostylkova³, Dagmar Bystricka³, Milena Novakova³, Iveta Sarova⁴, Silvia Izakova³, Libuse Lizcova³, Sarka Ransdorfova⁴, Zdenek Krejcik⁴, Michaela Dostalova Merkerova⁴, Alena Dohnalova⁵, Magda Siskova⁶, Anna Jonasova⁶, Radana Neuwirtova⁶, Jaroslav Cermak⁴

Affiliations

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.

PMID: 24636338
DOI: 10.1016/j.leukres.2014.01.012

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aged
Aged, 80 and over
Chromosome Deletion*
Chromosomes, Human, Pair 5*
Comparative Genomic Hybridization
Female
Humans
Karyotype
Male
Middle Aged
Myelodysplastic Syndromes / genetics*
Myelodysplastic Syndromes / mortality
Prognosis
Retrospective Studies