Clinical characteristics and prognostic analysis of gene in pediatric acute lymphoblastic leukemia: a retrospective case-control study.

In this retrospective case-control study involving 424 pediatric patients diagnosed with Pediatric Acute Lymphoblastic Leukemia (ALL), the investigation focused on analyzing the clinical characteristics and prognosis associated with the Cyclin-dependent kinase inhibitor 2A/2B () gene. Treatment and evaluation followed the South China Children's Leukemia Group-ALL-2016 protocol (SCCLG-ALL-2016). Among the cohort, 92 patients (21.7%) exhibited gene deletions, with 11.1% homozygous and 10.6% heterozygous deletions. Notably, ALL patients that do have gene deletions tended to present at an older age (= 0.001), demonstrate hepatosplenomegaly on palpation (< 0.001), and exhibit a higher incidence of Central nervous system leukemia (CNSL) (= 0.037) and T-ALL (= 0.007). A significant correlation was observed between ALL that does have gene deletions and (8.7% vs. 19.3%, = 0.017) and gene deletions (20.7% vs. 8.4%, = 0.001). Survival analysis of 392 patients revealed no significant differences in 5-year relapse, Overall survival (OS), or Event-free survival (EFS) between ALL that does/ does not have gene deletions. Subgroup analysis highlighted poorer prognosis among hepatosplenomegaly patients in the gene deletion group, with a 5-year EFS of 81.8%, 95%CI (0.695-0.963), = 0.05. Hepatosplenomegaly emerged as the most significant prognostic factor for EFS [HR = 2.306, 95%CI (1.192-4.461), = 0.013]. Cox regression analyses identified covariates influencing prognosis, ALL with the gene showing no significant impact on outcomes. In conclusion, while ALL that does have gene deletions is associated with certain clinical characteristics and genetic aberrations, they did not significantly impact OS or EFS. Furthermore, subgroup analysis revealed a potential prognostic role of ALL that does have deletions presenting with hepatosplenomegaly on palpation, emphasizing the importance of comprehensive risk stratification in treatment decision-making for this subgroup.