title: 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 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).
authors.affiliation: 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.
authors.forename: Zuzana
authors.initials: Z
authors.lastname: Zemanova
authors.affiliation: 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.
authors.forename: Kyra
authors.initials: K
authors.lastname: Michalova
authors.affiliation: Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and First Faculty of Medicine, Charles University in Prague, Czech Republic.
authors.forename: Halka
authors.initials: H
authors.lastname: Buryova
authors.affiliation: Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
authors.forename: Jana
authors.initials: J
authors.lastname: Brezinova
authors.affiliation: Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and First Faculty of Medicine, Charles University in Prague, Czech Republic.
authors.forename: Karla
authors.initials: K
authors.lastname: Kostylkova
authors.affiliation: Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and First Faculty of Medicine, Charles University in Prague, Czech Republic.
authors.forename: Dagmar
authors.initials: D
authors.lastname: Bystricka
authors.affiliation: Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and First Faculty of Medicine, Charles University in Prague, Czech Republic.
authors.forename: Milena
authors.initials: M
authors.lastname: Novakova
authors.affiliation: Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
authors.forename: Iveta
authors.initials: I
authors.lastname: Sarova
authors.affiliation: Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and First Faculty of Medicine, Charles University in Prague, Czech Republic.
authors.forename: Silvia
authors.initials: S
authors.lastname: Izakova
authors.affiliation: Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and First Faculty of Medicine, Charles University in Prague, Czech Republic.
authors.forename: Libuse
authors.initials: L
authors.lastname: Lizcova
authors.affiliation: Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
authors.forename: Sarka
authors.initials: S
authors.lastname: Ransdorfova
authors.affiliation: Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
authors.forename: Zdenek
authors.initials: Z
authors.lastname: Krejcik
authors.affiliation: Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
authors.forename: Michaela Dostalova
authors.initials: MD
authors.lastname: Merkerova
authors.affiliation: Institute of Physiology, First Faculty of Medicine, Charles University in Prague, Czech Republic.
authors.forename: Alena
authors.initials: A
authors.lastname: Dohnalova
authors.affiliation: First Medical Department, General University Hospital and First Faculty of Medicine, Charles University in Prague, Czech Republic.
authors.forename: Magda
authors.initials: M
authors.lastname: Siskova
authors.affiliation: First Medical Department, General University Hospital and First Faculty of Medicine, Charles University in Prague, Czech Republic.
authors.forename: Anna
authors.initials: A
authors.lastname: Jonasova
authors.affiliation: First Medical Department, General University Hospital and First Faculty of Medicine, Charles University in Prague, Czech Republic.
authors.forename: Radana
authors.initials: R
authors.lastname: Neuwirtova
authors.affiliation: Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
authors.forename: Jaroslav
authors.initials: J
authors.lastname: Cermak
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D059785:Karyotype; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000401:mortality; D011379:Prognosis; D012189:Retrospective Studies
keywords: Chromothripsis; Complex chromosomal aberrations; Deletion 5q; Genome instability; Myelodysplastic syndromes