The prognostic impact of IKAROS family zinc finger 1 genetic variants rs4132601 polymorphism in acute lymphoblastic leukemia patients

Background Acute lymphoblastic leukemia (ALL) is a malignancy associated with altered lymphoid precursor proliferation and accompanied with different genetic mutations. Few studies have been reported on the association between IKAROS Family Zinc Finger 1 (IKZF1) gene mutations and B-ALL. Aim The current study was held to investigate the IKZF1 genetic variant rs4132601 polymorphism in adult patients with B-ALL and to find its relation to disease outcome. Patients and methods The IKZF1 gene polymorphism was investigated in 100 newly diagnosed adult B-ALL patients. The patients were subjected to full history taking, clinical examination, peripheral blood, and bone marrow examination in addition to immunophenotyping. Results IKZF1 gene mutations were detected in 62 out of 100 patients. These mutations were significantly associated with higher WBC counts, increased blast percentage, lower hemoglobin levels, and reduced platelet counts. Additionally, IKZF1 mutations correlated with a higher frequency of hepatomegaly, poor treatment response, and increased mortality. Multivariate regression analysis for survival outcomes revealed that patients with IKZF1 gene mutations had a significantly higher risk of death compared with those with the wild-type gene (odds ratio=7.09, 95% confidence interval). Conclusion Our study highlights the strong association between IKZF1 mutations and poor prognostic indicators in B-ALL and a substantial disease burden with high relapse and mortality rates, emphasizing the need for improved therapeutic strategies.