Supplementary Material for: EVI1 Disruption Post Neuroblastoma Treatment: A Case Analysis of Treatment-Associated Acute Myeloid Leukemia in a Pediatric Patient

In recent years, there has been an increasing focus on understanding the long-term consequences of pediatric cancer treatments, particularly the emergence of secondary malignant neoplasms (SMNs). Here, we present a case study highlighting the aftermath of treatment, where a pediatric patient, initially treated for neuroblastoma, developed treatment-related acute myeloid leukemia (tAML) six years later. Our investigation emphasizes the crucial role of EVI1 disruption in accelerating the progression of secondary tumors. This case underscores the significant risk of SMNs following pediatric cancer therapy.By analyzing genetic anomalies, we identified variations in the PTPN11 and KMT2C genes, suggesting a complex interplay between genetic susceptibility and chemotherapy-induced mutagenesis in tAML development. Furthermore, our exploration of the involvement of topoisomerase II inhibitors in tAML provides insights into potential future therapeutic approaches.Reporting this case is vital for deepening our understanding of the mechanisms driving secondary malignant neoplasms after pediatric cancer treatments. Through a comprehensive analysis of genetic anomalies and treatment variables, we can offer more precise clinical diagnoses and treatment strategies. This approach holds the potential to reduce the occurrence of secondary tumors and improve the long-term prognosis for pediatric patients.

近年来，学术界日益关注儿童癌症治疗的长期后遗症，尤其是继发性恶性肿瘤（secondary malignant neoplasms, SMNs）的发生。本研究呈现一项旨在阐明治疗相关后遗症的病例研究：一名曾接受神经母细胞瘤治疗的儿童患者，在六年后确诊为治疗相关性急性髓系白血病（treatment-related acute myeloid leukemia, tAML）。本研究明确了EVI1基因异常在加速继发性肿瘤进展过程中的关键作用，该病例凸显了儿童癌症治疗后发生SMNs的显著风险。通过分析遗传异常，我们发现PTPN11与KMT2C基因存在变异，这提示在tAML的发生过程中，遗传易感性与化疗诱导的诱变效应存在复杂的相互作用。此外，我们对拓扑异构酶II抑制剂在tAML发病机制中作用的探索，为未来潜在的治疗策略提供了新思路。报告该病例对于加深我们对儿童癌症治疗后继发性恶性肿瘤致病机制的理解具有重要意义。通过对遗传异常与治疗相关变量的综合分析，我们能够为患者提供更为精准的临床诊断与治疗方案，该方案有望降低继发性肿瘤的发生率，并改善儿童患者的长期预后。