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Lookup NU author(s): Professor Christine Harrison FRCPath FMedSci
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2020, The Author(s).Aneuploidy occurs within a significant proportion of childhood B-cell acute lymphoblastic leukemia (B-ALL). Some copy number variations (CNV), associated with novel subtypes of childhood B-ALL, have prognostic significance. A total of 233 childhood B-ALL patients were enrolled into this study. Focal copy number alterations of ERG, IKZF1, PAX5, ETV6, RB1, BTG1, EBF1, CDKN2A/2B, and the Xp22.33/Yp11.31 region were assessed by Multiplex Ligation-dependent Probe Amplification (MLPA). The MLPA telomere kit was used to identify aneuploidy through detection of whole chromosome loss or gain. We carried out these procedures alongside measurement of DNA index in order to identify, aneuploidy status in our cohort. MLPA telomere data and DNA index correlated well with aneuploidy status at higher sensitivity than cytogenetic analysis. Three masked hypodiploid patients, undetected by cytogenetics, and their associated copy number neutral loss of heterozygosity (CN-LOH) were identified by STR and SNP arrays. Rearrangements of TCF3, located to 19p, were frequently associated with 19p deletions. Other genetic alterations including iAMP21, IKZF1 deletions, ERG deletions, PAX5AMP, which have clinical significance or are associated with novel subtypes of ALL, were identified. In conclusion, appropriate application of MLPA aids the identifications of CNV and aneuploidy in childhood B-ALL.
Author(s): Yu C-H, Lin T-K, Jou S-T, Lin C-Y, Lin K-H, Lu M-Y, Chen S-H, Cheng C-N, Wu K-H, Wang S-C, Chang H-H, Li M-J, Ni Y-L, Su Y-N, Lin D-T, Chen H-Y, Harrison CJ, Hung C-C, Lin S-W, Yang Y-L
Publication type: Article
Publication status: Published
Journal: Scientific Reports
Online publication date: 13/07/2020
Acceptance date: 26/05/2020
Date deposited: 30/07/2020
ISSN (electronic): 2045-2322
Publisher: Nature Research
PubMed id: 32661308
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