Cytogenetic analysis in relapsed childhood acute lymphoblastic leukemia

The nature of the cytogenetic abnormalities present at relapse of childhood acute lymphoblastic leukemia (ALL) and their relationship to the disease and the karyotype at diagnosis have not been clearly defined. This report describes cytogenetic analyses of 50/51 consecutive relapsed childhood ALL patients. Evolution of the karyotype was common, with structural abnormalities particularly frequent. Rearrangements involving chromosome 1 occurred frequently, particularly in patients with greater than 50 chromosomes. In patients with less than or equal to 50 chromosomes, structural aberrations were often unbalanced, leading to loss of genetic material, but these did not show a predominance of chromosome 1 abnormalities. These differences among the cytogenetic groups of ALL are an indication that the chromosomal abnormalities occurring in ALL reflect different biological events underlying this disease, and that different biological processes are involved in the several cytogenetic groups of ALL patients not only at initiation, but also during the progression and evolution of the disease.