[Correlation Between Molecular Genetic Features and Clinical Prognosis in Pediatric Burkitt Lymphoma]

To analyze the molecular genetic characteristics of Burkitt lymphoma (BL) in children and dynamically monitor changes in plasma circulating tumor DNA (ctDNA) levels, as well as to explore its correlation with clinical features and prognosis.

A retrospective analysis was conducted on the clinical and molecular genetic data of 41 newly diagnosed pediatric BL patients admitted to the Hematology and Oncology Center of Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, from January 2017 to July 2024. To explore the use of next-generation sequencing (NGS) for dynamically monitoring plasma ctDNA levels during treatment to assess therapeutic efficacy.

Among the 41 patients, 30 were male and 11 were female, with a median age at diagnosis of 5(1-13) years. According to the International Pediatric Non-Hodgkin Lymphoma Staging System, 3, 20, and 18 patients were classified as stage Ⅱ, Ⅲ, and Ⅳ, respectively. The most frequently identified genetic alterations included IGH-MYC fusion (51.2%), and mutations in ID3 (48.7%), MYC (46.3%), and TP53 (41.4%). The prevalence of EBV infection was significantly lower in patients with ID3 mutations than in those without mutations (P < 0.05). Patients with MYC mutations had a higher incidence of bulky disease compared to those without mutations (P < 0.05). CCND3 and SMARCA4 mutations were associated with significantly elevated lactate dehydrogenase levels at initial diagnosis (both P < 0.05). All patients were treated with chemotherapy according to the CNCL-NHL-2017 regimen or BFM-95 regimens for mature B-cell NHL. The median follow-up time was 4.5(1.5-8.0) years. The expected 5-year overall survival (OS) rate was 86.6% (95%CI : 70.6%-94.2%), and the 5-year relapse-free survival (RFS) rate was 85.1% (95%CI : 68.6%-95.0%). No significant correlation was observed between genetic mutations and interim treatment response. Although patients with TP53 mutation had a lower OS rate than those without mutation, the difference was not statistically significant (P >0.05). Plasma ctDNA was successfully obtained from 19 patients. The mutational profile detected in ctDNA was highly consistent with that from tissue samples. Dynamic monitoring during treatment showed that ctDNA abundance dropped to zero by the mid-term assessment and at the end of treatment. All 19 children in this subgroup survived.

BL patients harbor a characteristic genetic mutation profile, which correlates with certain clinical features but shows limited independent prognostic value in this cohort. Plasma ctDNA demonstrates high concordance with the mutation profile of tissue samples, and its dynamic changes reflect treatment response. However, its clinical utility requires validation in prospective studies.