AUTHOR=Chu Xinran , Qian Maoxiang , Yang Jin , Wu Dong , Gao Jing , Cao Lu , Fang Fang , Pan Jian , Zhang Hui , Hu Shaoyan 

TITLE=Effect of GATA3 rs3824662 gene polymorphism in Han Chinese children with pre-B-cell acute lymphoblastic leukemia with 10 years follow-up

JOURNAL=Frontiers in Pediatrics

VOLUME=10

YEAR=2023

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.1044866

DOI=10.3389/fped.2022.1044866

ISSN=2296-2360

ABSTRACT=<sec><title>Purpose</title><p>To evaluate the influence of <italic>GATA3</italic> rs3824662 on pre-B-cell acute lymphoblastic leukemia (pre-B-cell ALL) susceptibility and long-term prognosis in Han Chinese children with pre-B-cell ALL treated with the CCLG-2008 protocol at the Children’s Hospital of Soochow University.</p></sec><sec><title>Methods</title><p>A total of 256 patients with childhood pre-B-cell ALL under the CCLG-2008 protocol were enrolled in this study, and 174 healthy children were used as case controls. <italic>GATA3</italic> rs3824662 genotyping was performed using a polymerase chain reaction, followed by Sanger sequencing. The association of genotype with clinical characteristics, treatment response, adverse events, and outcomes were analyzed.</p></sec><sec><title>Results</title><p>The A allele frequency of <italic>GATA3</italic> rs3824662 in patients with pre-B cell ALL was significantly higher than that in healthy children (OR = 1.41, 95% CI = 1.042–1.908; <italic>P </italic>= 0.026). Among patients with pre-B-cell ALL, the <italic>GATA3</italic> rs3824662 AA genotype was associated with poor prednisolone response and high blast cell burden on day 15 of the induction therapy (<italic>P </italic>= 0.011 and 0.007, respectively). Patients with the rs3824662 AA variant suffered more episodes of sepsis than those with the CC or CA variants (<italic>P </italic>= 0.021). The GATA3 rs3824662 AA genotype was significantly associated with sepsis [hazard ratio (HR) = 3.375; <italic>P </italic>= 0.01]. No significant differences were found in the cumulative incidence of relapse, overall survival, and event-free survival among all genotypes.</p></sec><sec><title>Conclusion</title><p><italic>GATA3</italic> rs3824662 was associated with susceptibility in Han Chinese children with pre-B-cell ALL and could be a possible risk factor for poor early treatment response and treatment-related sepsis.</p></sec>