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

Chih Hsiang Yu, Tze Kang Lin, Shiann Tarng Jou, Chien Yu Lin, Kai Hsin Lin, Meng Yao Lu, Shu Huey Chen, Chao Neng Cheng, Kang Hsi Wu, Shih Chung Wang, Hsiu Hao Chang, Meng Ju Li, Yu Ling Ni, Yi Ning Su, Dong Tsamn Lin, Hsuan Yu Chen, Christine J. Harrison, Chia Cheng Hung, Shu Wha Lin, Yung Li Yang

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12 Citations (Scopus)


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.

Original languageEnglish
Article number11501
JournalScientific Reports
Issue number1
Publication statusPublished - Dec 1 2020

ASJC Scopus subject areas

  • General


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