Comparative genomic hybridization in childhood acute lymphoblastic leukemia: correlation with interphase cytogenetics and loss of heterozygosity analysis

We used comparative genomic hybridization (CGH) to study DNA copy number ch anges 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, 1 4, 18, X (15.5% each), 17 (14.1%) and 4 (11.3%). Highly hyperdiploid karyot ypes (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 d etected on 9p (14.1%) and 12p (8.4%), and on 6q in T-lineage ALL (4.2%). Th ese 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-positi ve regions (31.5%). G-banding analysis and interphase cytogenetics with sub regional probes for 14 loci confirmed the presence of genomic imbalances as detected by CGH. We, therefore, conclude that, in the absence of cytogenet ic data, CGH represents a suitable method for identifying hyperdiploid kary otypes as well as prognostically relevant deletions in ALL patients. (C) 20 01 Elsevier Science Inc. All rights reserved.