Measurable residual disease analysis in paediatric acute lymphoblastic leukaemia patients with ABL-class fusions.

ABSTRACT:

Background

ABL-class fusions including NUP214-ABL1 and EBF1-PDGFRB occur in high risk acute lymphoblastic leukaemia (ALL) with gene expression patterns similar to BCR-ABL-positive ALL. Our aim was to evaluate new DNA-based measurable residual disease (MRD) tests detecting these fusions and IKZF1-deletions in comparison with conventional immunoglobulin/T-cell receptor (Ig/TCR) markers.

Methods

Precise genomic breakpoints were defined from targeted or whole genome next generation sequencing for ABL-fusions and BCR-ABL1. Quantitative PCR assays were designed and used to re-measure MRD in remission bone marrow samples previously tested using Ig/TCR markers. All MRD testing complied with EuroMRD guidelines.

Results

ABL-class patients had 46% 5year event-free survival and 7

SUBMITTER: Venn NC 

PROVIDER: S-EPMC9427854 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature