Clinical Characteristics and Outcomes of Pediatric B-Cell Acute Lymphoblastic Leukemia Harboring TP53 Mutations: A Single-Center Retrospective Study.
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BACKGROUND: This study analyzed the genetic mutation spectrum, clinical characteristics, and therapeutic outcomes of pediatric B-cell acute lymphoblastic leukemia (B-ALL) patients harboring TP53 mutations. METHODS: A retrospective analysis was conducted on 32 pediatric B-ALL patients with TP53 mutations admitted to Beijing Children's Hospital, Capital Medical University, from November 2019 to August 2025. Clinical data, genetic characteristics, treatment responses, and prognostic outcomes were collected and analyzed. RESULTS: Among the 32 patients, the male-to-female ratio was 1.46:1 (19 males and 13 females). The median age at onset was 7.0 (range: 1.5-14.0) years. Fusion genes were detected in 47% (15/32) of patients, and abnormal karyotypes were present in 65% (20/31) of patients. The complete remission (CR) rate after induction therapy was 100%. At the end of follow-up, 29 patients remained disease-free, while 3 patients experienced relapse. Outcomes for relapsed patients were poor despite various salvage therapies, including novel agents, CAR-T therapy, and HSCT, and treatments were complicated by severe chemotherapy-related adverse events. No deaths occurred during the study period. The 3-year event-free survival (EFS) for the entire cohort was 92% ± 5%. Subgroup analyses based on mutation type and mutation site showed no significant differences in 3-year EFS. CONCLUSION: The incidence of TP53 mutations in pediatric B-ALL is approximately 3%, and these cases are frequently accompanied by complex genetic features. Although the response to initial induction therapy is generally favorable, the prognosis becomes poor once relapse occurs, with limited efficacy observed from current salvage strategies.