OBJECTIVE To characterize the distribution of chemotherapy drug-related single nucleotide polymorphisms(SNPs) in pediatric acute leukemia and to compare these patterns across major global populations, thereby providing evidence for individualized chemotherapy strategies.

METHODS Bone marrow samples were collected from pediatric patients newly diagnosed with acute leukemia between January 2018 and December 2020. Twenty-six pharmacogenetically relevant loci involving six classes of chemotherapeutic agents were analyzed using next-generation sequencing. Allele and genotype frequencies, conformity with the Hardy-Weinberg equilibrium, and inter-population differences were evaluated and compared with data from East Asian, European, and American populations in the PharmGKB database.

RESULTS A total of 425 pediatric patients were included. Among the 26 SNPs tested, only NUDT15(415C>T) and TP53(215G>C) deviated from Hardy-Weinberg equilibrium. The T allele frequency of NUDT15(415C>T) in this cohort was comparable to that reported in East Asian populations but was markedly higher than that reported in European and American populations. The G allele of GSTP1(313A>G) showed a lower frequency than that reported in Western populations, whereas MTHFR(665G>A) exhibited minimal population-specific variation. These findings indicate a distinctive pharmacogenomic profile in Chinese pediatric patients.

CONCLUSION The distribution of chemotherapy drug–related SNPs in Chinese children with acute leukemia differs from that of Western populations. Incorporating specific genetic characteristics into pharmacogenomic testing may improve dose optimization and toxicity risk prediction, supporting more precise and individualized treatment strategies.