title: Comparative genomic hybridization in childhood acute lymphoblastic leukemia: correlation with interphase cytogenetics and loss of heterozygosity analysis.
abstract: We used comparative genomic hybridization (CGH) to study DNA copy number changes in 71 children with acute lymphoblastic leukemia (ALL) including 50 B-lineage and 21 T-ALLs. Forty-two patients (59%) showed genomic imbalances whereby gains were more frequently observed than losses (127 vs. 29). Gains most commonly affected the entire chromosomes 21 and 10 (19.7% each), 6, 14, 18, X (15.5% each), 17 (14.1%) and 4 (11.3%). Highly hyperdiploid karyotypes (chromosome number >50) occurred more frequently in B-lineage than in T-lineage ALL (24% vs. 4.8%). In both cell lineages deletions were mainly detected on 9p (14.1%) and 12p (8.4%), and on 6q in T-lineage ALL (4.2%). These findings were compared with loss of heterozygosity (LOH) of 6q, 9p, 11q, and 12p previously performed in 56 of the 71 patients. Among 54 sites of LOH, CGH revealed losses of the respective chromosome arms in 17 LOH-positive regions (31.5%). G-banding analysis and interphase cytogenetics with subregional probes for 14 loci confirmed the presence of genomic imbalances as detected by CGH. We, therefore, conclude that, in the absence of cytogenetic data, CGH represents a suitable method for identifying hyperdiploid karyotypes as well as prognostically relevant deletions in ALL patients.
authors.affiliation: Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 328, D-69120 Heidelberg, Germany.
authors.forename: I
authors.initials: I
authors.lastname: Scholz
authors.forename: S
authors.initials: S
authors.lastname: Popp
authors.forename: M
authors.initials: M
authors.lastname: Granzow
authors.forename: B
authors.initials: B
authors.lastname: Schoell
authors.forename: H
authors.initials: H
authors.lastname: Holtgreve-Grez
authors.forename: S
authors.initials: S
authors.lastname: Takeuchi
authors.forename: M
authors.initials: M
authors.lastname: Schrappe
authors.forename: J
authors.initials: J
authors.lastname: Harbott
authors.forename: A
authors.initials: A
authors.lastname: Teigler-Schlegel
authors.forename: M
authors.initials: M
authors.lastname: Zimmermann
authors.forename: C
authors.initials: C
authors.lastname: Fischer
authors.forename: H P
authors.initials: HP
authors.lastname: Koeffler
authors.forename: C R
authors.initials: CR
authors.lastname: Bartram
authors.forename: A
authors.initials: A
authors.lastname: Jauch
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D017403:In Situ Hybridization / Q000379:methods; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007399:Interphase / Q000235:genetics; D019656:Loss of Heterozygosity; D008297:Male; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D012680:Sensitivity and Specificity