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Deletion or mutation of the IKZF1 gene marked a subgroup of childhood B-cell acute lymphoblastic leukaemia with a threefold higher risk of relapse, and these cases shared a gene expression signature with Philadelphia-positive leukaemia.
Genomic study of 221 children with high-risk B-ALL identifying IKZF1 deletions or mutations in 28.6 percent, associated with a hazard ratio of about 3.5 for relapse, poor outcome independent of other factors, and a gene expression profile resembling BCR-ABL1-positive ALL; findings were validated in a second cohort.
IKZF1 status is part of risk stratification in several paediatric ALL protocols and is a hallmark of Ph-like ALL.
Shares Philadelphia chromosome-like acute lymphoblastic leukaemia (Ph-like or BCR::ABL1-like ALL), New England Journal of Medicine.
Shares Philadelphia chromosome-like acute lymphoblastic leukaemia (Ph-like or BCR::ABL1-like ALL), New England Journal of Medicine.