Diagnostic and Prognostic Value of DNA Repair Gene XRCC1 ARG399GLN Polymorphism in Childhood Acute Lymphoblastic Leukemia: A Single-Center Egyptian Study

Abstract

Background Repair pathways for DNA damage are essential for repairing various forms of DNA damage. Leukemia risk may be increased by poor DNA repair. This study was conducted to better understand the significance of XRCC1Arg399 Gln polymorphisms in acute lymphoblastic leukemia (ALL) susceptibility and prognosis. Patients and methods Twenty children with ALL participated in the pediatric trial at Tanta University. Thirty healthy controls were of the same age and sex. Complete blood counts, bone marrow aspirates, immunophenotyping, flow cytometry, and XRCC1 genotyping by PCR were performed. Results The allele Gln/Gln was found in one (3.3%) of the controls and two (10%) cases had an odds ratio of 0.13 (0.27–38.1), P=0.34. Eight (40%) patients and six controls [odds ratio of 2.66 (0.75–9.4), P=0.11], had the Arg/Gln allele. Finally, 23 (76.7%) members of the control group and 10 (50%) patients carried this allele (Arg/Arg). The genotype’s prognostic value for alleles: two (20%) of patients with the allele (Arg/Arg) were refractory. Two (25%) patients died during the induction for the allele (Arg/Gln), while four (50%) patients were refractory. Last but not least, no one experienced total remission under the allele (Gln/Gln). Conclusion The XRCC1 polymorphism is not linked to the development of ALL; nevertheless, having mutant alleles was linked to a poorer prognosis.