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

研究成果: 雜誌貢獻文章同行評審

2 引文 斯高帕斯(Scopus)

摘要

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.
原文英語
文章編號11501
期刊Scientific Reports
10
發行號1
DOIs
出版狀態已發佈 - 十二月 1 2020

ASJC Scopus subject areas

  • 多學科

指紋

深入研究「MLPA and DNA index improve the molecular diagnosis of childhood B-cell acute lymphoblastic leukemia」主題。共同形成了獨特的指紋。

引用此