# Deletion of IKZF1 and prognosis in acute lymphoblastic leukaemia

Source: https://onco.cc/key-papers/paper-mullighan-ikzf1-nejm-2009/  
OnCo record `paper-mullighan-ikzf1-nejm-2009` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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.

## Summary

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.

## Fields

- Kind: Key paper
- Last checked: 2026-09-17
- Journal: New England Journal of Medicine
- Year: 2009
- DOI: 10.1056/NEJMoa0808253
- Authors: Mullighan CG, Su X, Zhang J, et al.
- Findings: IKZF1 alterations in 28.6 percent of high-risk B-ALL.; Hazard ratio for relapse about 3.5 with IKZF1 alteration.
- What it means: IKZF1 status is part of risk stratification in several paediatric ALL protocols and is a hallmark of Ph-like ALL.
- Caveats: Prognostic effect is attenuated by measurable residual disease-directed therapy and co-occurring favourable lesions.

## Sources

- N Engl J Med 2009: https://doi.org/10.1056/NEJMoa0808253
- PubMed: https://pubmed.ncbi.nlm.nih.gov/19129520/

## Connected records

- cancers: [Philadelphia chromosome-like acute lymphoblastic leukaemia (Ph-like or BCR::ABL1-like ALL)](https://onco.cc/cancers/all-ph-like/)
- journals: [New England Journal of Medicine](https://onco.cc/journals/nejm/)

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