Clinical Parameters and SNP Prevalence of CYP2E1, MDM2, and BHMT Genes in Acute Lymphoblastic Leukemia

Objective: To evaluate the associations between the CYP2E1 rs2070672, MDM2 rs2279744, and BHMT rs3733890 polymorphisms and clinical parameters in pediatric acute lymphoblastic leukemia (ALL), including lineage (B-ALL versus T-ALL). Methods: To detect genetic mutations in children with ALL, the tetra-primer ARMS PCR method was used, after which the clinical features and factors were analyzed for single-nucleotide polymorphisms (rs2070672, rs2279744, and rs3733890). We implemented quality control (duplicate genotyping, internal controls) and performed exploratory power assessments. Results: This study revealed a correlation between clinical features and an increased risk of ALL. These findings may have important implications for early diagnosis and treatment. Clinical features, including hemoglobin (Hb, g/l) and platelet count (PLT, 10 9 /l), were significant in B-ALL patients, whereas white blood cell count (WBC, 10 9 /l) and lactate dehydrogenase (LDH, U/l) were significant in T-ALL patients. ALL is more prevalent in males than in females. However, age and serum ferritin concentration (ng/ml) did not significantly differ between ALL patients and controls. The increased prevalence of both G and A alleles (rs2070672 A/G) and the mutant A allele (rs3733890 G/A) may have influenced the increased deviation of clinical feature means in B-ALL patients. Conclusion: CYP2E1, MDM2, and BHMT polymorphisms were associated with pediatric ALL in this cohort and aligned with distinct lineage-specific clinical profiles. These hypothesis-generating results warrant confirmation in larger, multicenter cohorts with formal control for population structure and functional follow-up.