{"entity":{"id":"paper-mullighan-ikzf1-nejm-2009","kind":"paper","name":"Deletion of IKZF1 and prognosis in acute lymphoblastic leukaemia","aka":[],"tldr":"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.","asOf":"2026-09-17","links":[{"label":"N Engl J Med 2009","url":"https://doi.org/10.1056/NEJMoa0808253"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/19129520/"}],"tags":[],"related":[],"cancers":["all-ph-like"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":["nejm"],"dependsOn":[],"notes":[],"journal":"New England Journal of Medicine","year":2009,"doi":"10.1056/NEJMoa0808253","pmid":"19129520","authors":"Mullighan CG, Su X, Zhang J, et al.","paperType":"translational","findings":["IKZF1 alterations in 28.6 percent of high-risk B-ALL.","Hazard ratio for relapse about 3.5 with IKZF1 alteration."],"whatItMeans":"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."],"changedPractice":true,"participants":221},"route":"/key-papers/paper-mullighan-ikzf1-nejm-2009/","neighbours":{"cancer":[{"id":"all-ph-like","kind":"cancer","name":"Philadelphia chromosome-like acute lymphoblastic leukaemia (Ph-like or BCR::ABL1-like ALL)","route":"/cancers/all-ph-like/"}],"journal":[{"id":"nejm","kind":"journal","name":"New England Journal of Medicine","route":"/journals/nejm/"}]}}