title: Chromosomal aberrations in childhood acute lymphoblastic leukemia: 15-year single center experience.
abstract: Genetic analysis of leukemic cells significantly impacts prognosis and treatment stratification in childhood acute lymphoblastic leukemia (ALL). Our retrospective single center study of 86 children with ALL enrolled into three consecutive treatment protocols (ALL-BFM 90, ALL-BFM 95 and ALL IC-BFM 2002) between 1991 and 2007 demonstrates the importance of conventional cytogenetics and fluorescence in situ hybridization (FISH). Cytogenetic and FISH examinations were performed successfully in 82/86 (95.3%) patients and chromosomal changes were detected in 78 of the 82 (95.1%) patients: in 69/73 patients with B-cell precursor (BCP)-ALL and in 9/9 patients with T-lineage ALL (T-ALL). The most frequent chromosomal changes in subgroups divided according to WHO classification independent of treatment protocol and leukemia subtype were hyperdiploidy in 36 patients (with ≥50 chromosomes in 23 patients, with 47-49 chromosomes 13 patients) followed by translocation t(12;21) with ETV6/RUNX1 fusion detected by FISH in 18 (22%) patients. Additional changes were detected in 16/18 (88.8%) ETV6/RUNX1-positive ALL patients with predominant deletion or rearrangement of untranslocated ETV6 allele. Unique aberrations were detected in 4 patients and dicentric chromosomes in 8 patients, one with T-ALL. These results demonstrate that cytogenetics and FISH successfully provided important prognostic information and revealed not only recurrent but also new and rare rearrangements requiring further investigation in terms of prognostic significance.
authors.affiliation: Department of Hemato-Oncology, Faculty of Medicine and Dentistry, University Hospital Olomouc, Palacky University Olomouc, 775 15, Czech Republic. Electronic address: marie.jarosova@fnol.cz.
authors.forename: Marie
authors.initials: M
authors.lastname: Jarosova
authors.affiliation: Department of Pediatrics, Faculty of Medicine and Dentistry, University Hospital Olomouc, Palacky University, Czech Republic; Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacky University Olomouc, Czech Republic.
authors.forename: Jana
authors.initials: J
authors.lastname: Volejnikova
authors.affiliation: Department of Hemato-Oncology, Faculty of Medicine and Dentistry, University Hospital Olomouc, Palacky University Olomouc, 775 15, Czech Republic.
authors.forename: Ilona
authors.initials: I
authors.lastname: Porizkova
authors.affiliation: Department of Hemato-Oncology, Faculty of Medicine and Dentistry, University Hospital Olomouc, Palacky University Olomouc, 775 15, Czech Republic.
authors.forename: Milena
authors.initials: M
authors.lastname: Holzerova
authors.affiliation: Department of Pediatrics, Faculty of Medicine and Dentistry, University Hospital Olomouc, Palacky University, Czech Republic.
authors.forename: Dagmar
authors.initials: D
authors.lastname: Pospisilova
authors.affiliation: Department of Pediatrics, Faculty of Medicine and Dentistry, University Hospital Olomouc, Palacky University, Czech Republic.
authors.forename: Zbynek
authors.initials: Z
authors.lastname: Novak
authors.affiliation: Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacky University Olomouc, Czech Republic.
authors.forename: Jana
authors.initials: J
authors.lastname: Vrbkova
authors.affiliation: Department of Pediatrics, Faculty of Medicine and Dentistry, University Hospital Olomouc, Palacky University, Czech Republic; Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacky University Olomouc, Czech Republic.
authors.forename: Vladimir
authors.initials: V
authors.lastname: Mihal
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D020732:Cytogenetic Analysis / Q000379:methods*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007223:Infant; D008297:Male; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D012189:Retrospective Studies
keywords: Childhood acute lymphoblastic leukemia; chromosomal aberration; cytogenetics; dicentric chromosome; fluorescence in situ hybridization (FISH)