International Journal of Hematology

DOI: 10.1007/s12185-017-2315-0 Pages: 794-800

Polymorphism in IKZF1 gene affects clinical outcome in diffuse large B-cell lymphoma

1. Medical University of Lodz, Department of Pediatrics, Oncology, Hematology and Diabetology

2. Medical University of Lodz, Department of Clinical Genetics

3. Medical University of Lodz, Chair of Oncology, Department of Pathology

4. Medical University of Warsaw, Postgraduate School of Molecular Medicine

5. Wojewódzki Szpital Specjalistyczny im. M. Kopernika, Department of Chemotherapy

6. Institute of Hematology and Transfusion Medicine, Department of Diagnostic Hematology

7. Medical University of Lodz, Department of Hematology

8. Institute of Hematology and Transfusion Medicine, Department of Hematology

9. Centre of Postgraduate Medical Education, Department of Hematology and Transfusion Medicine

Correspondence to:
Wojciech Młynarski
Tel: +48 42 617 77 50



IKZF1 encodes a transcription factor involved in B-cell maturation and differentiation. We genotyped 218 diffuse large B-cell lymphoma (DLBCL) patients and 715 unrelated controls using a TaqMan allelic discrimination assay. No statistical difference was observed in the genotype distribution of the IKZF1 rs4132601 polymorphism between DLBCL patients and controls. However, the 2-year PFS rate of patients with the IKZF1 TT genotype was 54.3% compared to 68.6% in those with the IKZF1 G+ genotypes. Moreover, the IKZF1 rs4132601 polymorphism retained its independent prognostic impact on PFS. A more pronounced effect of the IKZF1 TT genotype on PFS was detected in patients with low/intermediate low IPI-risk group. When analysis was restricted to patients with GCB-type pattern, those with the IKZF1 TT genotype achieved a lower 5-year OS rate than the patients with the IKZF1 G+ genotypes (19.6 vs. 56%). This study provides the first evidence for the association of IKZF1 variants with DLBCL outcome.

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