key papersKey paper
A subtype of childhood acute lymphoblastic leukaemia with poor outcome: genome-wide classification study (BCR-ABL1-like ALL)
Gene expression profiling identified a group of childhood leukaemias that look like Philadelphia-positive disease without the fusion gene, later called Ph-like or BCR-ABL1-like ALL, with a high relapse rate and frequent IKZF1 deletions.
Overview
Genome-wide expression classification of 190 childhood B-ALL cases identifying a novel subtype in about 15 percent of B-other cases with a signature resembling BCR-ABL1-positive ALL, frequent IKZF1 deletions, and poor five-year disease-free survival (about 60 percent) validated in independent cohorts.
Translational studyChanged practice190 participants
Authors
Den Boer ML, van Slegtenhorst M, De Menezes RX, et al.
Published
The Lancet Oncology, 2009
Findings
- BCR-ABL1-like subtype in about 15 percent of B-other childhood ALL.
- Five-year disease-free survival about 60 percent, similar to BCR-ABL1-positive ALL.
What it means
This discovery, made simultaneously with the American Children's Oncology Group finding, created the Ph-like ALL category now screened for in high-risk protocols.
Caveats
- Discovery study without kinase lesion characterisation, which came with later sequencing.