Abstract
Numerical and structural chromosomal abnormalities occur in up to 90% of cases of childhood ALL. Two-thirds of these abnormalities are recurrent. The most common abnormalities are pseudodiploidy and t(1;19), occurring in 40% and 5-6%, respectively. Hyperdiploidy has the best prognosis, with 80-90% five-year survival. The 4;11 translocation has the worst prognosis, with a 10-35% five-year survival. We report a patient with infantile acute lymphoblastic leukemia and a nonrecurrent translocation, t(10;11). Structural rearrangements between chromosomes 10 and 11 have been observed in 0.5% of all cases of childhood ALL with cytogenetic abnormalities. The identification of this apparently unique structural abnormality was achieved using fluorescent in situ hybridization (FISH) with chromosome 10- and chromosome 11-specific painting probes as an adjunct to conventional cytogenetics. As is often the case, suboptimal preparations often preclude unequivocal identification of complex rearrangements by banding techniques. The cytogenetic diagnosis of our patient was established as 46,XY,t(10;11)(p15q25;q14p11). The benefits of FISH serve to increase the resolution of detection for chromosomal abnormalities and the understanding of the pathogenic mechanisms of childhood ALL.
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Alter, D., Glasser, L. & Mark, H. Chromosome painting for diagnosing a 10;11 translocation in a patient with infantile acute lymphoblastic leukemia. Genet Med 1, 66 (1999). https://doi.org/10.1097/00125817-199901000-00099
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DOI: https://doi.org/10.1097/00125817-199901000-00099