Toggle Main Menu Toggle Search

Open Access padlockePrints

MLPA and DNA index improve the molecular diagnosis of childhood B-cell acute lymphoblastic leukemia

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.

Publication metadata

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

Year: 2020

Volume: 10

Issue: 1

Online publication date: 13/07/2020

Acceptance date: 26/05/2020

Date deposited: 30/07/2020

ISSN (electronic): 2045-2322

Publisher: Nature Research


DOI: 10.1038/s41598-020-68311-9

PubMed id: 32661308


Altmetrics provided by Altmetric