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

Sep 24, 2026

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Focuses on long-term consequences of pediatric cancer therapy through a detailed case study. A child initially treated for neuroblastoma developed treatment-related acute myeloid leukemia (tAML) six years later, with emphasis on how EVI1 disruption accelerates secondary tumor progression. Genetic analysis highlights variations in PTPN11 and KMT2C and suggests interplay between inherited susceptibility and chemotherapy-induced mutagenesis. Discusses relevance of topoisomerase II inhibitors to inform future therapeutic strategies and underscores the importance of early detection and individualized diagnosis to improve long-term prognosis.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages7

Reading Time18 min

AccessFree to download

Introduction

Case Report

Discussion

Conclusion

Case Reports in Oncology | Case Rep Oncol 2023;16:893–899 | | | --- | --- | | DOI: 10.1159/000533571
Received: June 30, 2023
Accepted: August 8, 2023
Published online: September 12, 2023 | © 2023 The Author(s) .
Published by S. Karger AG, Basel [www.karger.com/cro](www.karger.com/cro) | This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC) ([http://www.karger.com/Services/OpenAccessLicense](http://www.karger.com/Services/OpenAccessLicense)). Usage and distribution for commercial purposes requires written permission. Case Report EVI1 Disruption Post Neuroblastoma Treatment: A Case Analysis of Treatment-Associated Acute Myeloid Leukemia in a Pediatric Patient Xin Zhang Department of Pediatric Hematology and Oncology, Xinhua Hospital Afﬁlliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China Keywords Second malignant neoplasms · Neuroblastoma · Mutation · Leukemia · Child Abstract 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) 6 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, weidentiﬁed 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 SMNs 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. © 2023 The Author(s) . Published by S. KargerAG, Basel Correspondence to: Xin Zhang, [zxcongufo](zxcongufo@ 163.com)[@](zxcongufo@ 163.com)[ 163.com](zxcongufo@ 163.com) Case Reports in Oncology Case Rep Oncol 2023;16:893–899 894 | DOI: 10.1159/000533571 | © 2023 The Author(s) . Published by S. Karger AG, Basel [www.karger.com/cro](www.karger.com/cro) | | --- | --- | Zhang: tAML after NB Treatment Introduction While the adverse effects of cancer treatment, such as nausea, alopecia, and myelosuppression, are well-known, the emergence of late-term toxicities in long-term cancer survivors poses a more intricate challenge in detection and management. Among these complexities, the emergence of secondary malignant neoplasms (SMNs) stands as a formidable complication. SMNs denote novel malignancies that arise autonomously from the primary ailment, distinct from metastatic tumors [1, 2] . In the cohort of individuals diagnosed with primary malignant neoplasms, SMNs constitute a prominent contributor to non-relapserelated late-stage mortality, accounting for approximately 50% of non-relapse-related deaths in cancer survivors at the 5-year mark [3] . The most robust correlation between chemotherapy and the incidence of SMNs is observed in cases of treatment-related acute myeloid leukemia (tAML) . According to the World Health Organization (WHO), tAML is characterized as a belated consequence of cytotoxic chemotherapy employed for either neoplastic or nonneoplastic conditions. Almost universally, alkylating agents and topoisomerase II inhibitors administered in this therapeuti

FAQs

What secondary malignancy developed in the pediatric patient after neuroblastoma treatment?

The patient developed treatment-related acute myeloid leukemia (tAML) six years after completing neuroblastoma therapy.

Why is EVI1 disruption considered important in this case?

The study emphasizes that EVI1 disruption plays a crucial role in accelerating the progression of secondary tumors in this patient.

Which genetic alterations were reported in the case analysis?

Genetic anomalies included variations in the PTPN11 and KMT2C genes, suggesting a combined effect of genetic susceptibility and chemotherapy-induced mutagenesis.

Sep 24, 2026

Uploaded by Grenda