IRF4 mutations in chronic lymphocytic leukemia

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BlankIRF4 mutations in chronic lymphocytic leukemia

1.. Violaine Havelange1,

2.. Yuri Pekarsky1,

3.. Tatsuya Nakamura1,

4.. ey Palamarchuk1,

5.. Hansjuerg Alder1,

6.. Rassenti2,

7.. Kipps2, and

8.. Carlo M. Croce1,*

+ Author Affiliations

1.. 1 Department of Molecular Virology, Immunology, and Medical Genetics,

Comprehensive Cancer Center, The Ohio State University, Columbus, OH, United

States;

2.. 2 Department of Medicine, University of California at San Diego, La Jolla,

CA, United States

1.. ?* Corresponding author; email: carlo.croce@...

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 (CLL) risk locus. In this study, we report a recurrent

heterozygous somatic mutation in the DNA binding domain of IRF4 detected in

7/457 CLL patients (1.5%). Patients with IRF4 mutation have a good prognosis and

4 out of 6 have a trisomy 12. We also found that IRF4 mRNA expression is higher

in the patients with the mutation.