Article: article from journal or magazin.
Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G-banding. Implications for treatment stratification of childhood acute lymphoblastic leukaemia: detailed analysis of 70 cases.
European Journal of Haematology
Publication types: Comparative Study ; Evaluation Studies ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Seventy uniformly treated children with acute lymphoblastic leukemia were analysed for chromosomal abnormalities with conventional G-banding, spectral karyotyping (SKY) and interphase fluorescent in situ hybridisation (FISH) using probes to detect MLL, BCR/ABL, TEL/AML1 rearrangements and INK4 locus deletions. Numerical and/or structural changes could be identified in 80% of the patients by the use of molecular cytogenetic techniques, whereas abnormalities could be detected in 60% of the patients using G-banding alone. Altogether, 106 structural aberrations were defined by FISH compared to 34 using G-banding. Seventy-four percent of the patients had numerical aberrations, 54% structural aberrations and 20% had no identified aberrations. Twelve cases had prognostically unfavourable chromosomal aberrations that had not been detected in the G-banded analysis. We identified three novel TEL partner breakpoints on 1q41, 8q24 and 21p12, and a recurrent translocation t(1;12)(p32;p13) was found. In addition, two cases displayed amplification (7-15 copies) of AML1. Our results demonstrate the usefulness of SKY and interphase FISH for the identification of novel chromosome aberrations and cytogenetic abnormalities that provide prognostically important information in childhood ALL.
Adolescent, Aneuploidy, Child, Child, Preschool, Chromosome Aberrations, Chromosome Banding, Chromosomes, Human/genetics, Chromosomes, Human/ultrastructure, Chromosomes, Human, Pair 1/genetics, Chromosomes, Human, Pair 1/ultrastructure, Chromosomes, Human, Pair 21/genetics, Chromosomes, Human, Pair 21/ultrastructure, Chromosomes, Human, Pair 8/genetics, Chromosomes, Human, Pair 8/ultrastructure, Core Binding Factor Alpha 2 Subunit, DNA-Binding Proteins/genetics, Female, Fusion Proteins, bcr-abl/genetics, Genes, abl, Genes, p16, Humans, In Situ Hybridization, Fluorescence/methods, Infant, Infant, Newborn, Interphase, Karyotyping/methods, Leukemia, T-Cell/genetics, Male, Myeloid-Lymphoid Leukemia Protein, Oncogene Proteins, Fusion/genetics, Philadelphia Chromosome, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/genetics, Precursor Cell Lymphoblastic Leukemia-Lymphoma/classification, Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics, Prognosis, Proto-Oncogenes, Transcription Factors, Translocation, Genetic/genetics
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