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Blood. 2011 Sep 8;118(10):2827-9. doi: 10.1182/blood-2011-04-350579. Epub 2011 Jul 25.

IRF4 mutations in chronic lymphocytic leukemia.

Author information

1
Department of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA.

Abstract

Interferon regulatory factor 4 (IRF4) is a member of the interferon regulatory factor family of transcription factors and has been shown to have critical functions at several stages of B-cell development. Genome-wide association study identified a polymorphism in the 3' untranslated region of IRF4 as a chronic lymphocytic leukemia risk locus. In this study, we report a recurrent heterozygous somatic mutation in the DNA-binding domain of IRF4 detected in 7 of 457 chronic lymphocytic leukemia patients (1.5%). Patients with IRF4 mutation have a good prognosis, and 4 of 6 have a trisomy 12. We also found that IRF4 mRNA expression is higher in the patients with the mutation.

PMID:
21791429
PMCID:
PMC3172799
DOI:
10.1182/blood-2011-04-350579
[Indexed for MEDLINE]
Free PMC Article

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