Cheng Y, Yu X, Song ZN, Li MJ, Zhao XR, Jia XD, Liu Z, Yu Z, Zhang FY. Whole-exome sequencing identification of the risk variants in a middle-aged adult with intracranial Ewing’s sarcoma: A case report. World J Clin Oncol 2026; 17(7): 121262 [DOI: 10.5306/wjco.121262]
Corresponding Author of This Article
Feng-Yan Zhang, Department of Radiotherapy, Liaocheng People’s Hospital, No. 67 Dongchang West Road, Liaocheng 252000, Shandong Province, China. a18653610708@126.com
Research Domain of This Article
Oncology
Article-Type of This Article
case-report
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Cheng Y, Yu X, Song ZN, Li MJ, Zhao XR, Jia XD, Liu Z, Yu Z, Zhang FY. Whole-exome sequencing identification of the risk variants in a middle-aged adult with intracranial Ewing’s sarcoma: A case report. World J Clin Oncol 2026; 17(7): 121262 [DOI: 10.5306/wjco.121262]
Yan Cheng, Zhao-Na Song, Xiao-Dong Jia, Joint Laboratory for Translational Medicine Research, Liaocheng People’s Hospital, Liaocheng 252000, Shandong Province, China
Xiao Yu, Ming-Jun Li, Xiang-Rong Zhao, Feng-Yan Zhang, Department of Radiotherapy, Liaocheng People’s Hospital, Liaocheng 252000, Shandong Province, China
Zhen Yu, Department of Intervention, Liaocheng People’s Hospital, Liaocheng 252000, Shandong Province, China
Co-first authors: Yan Cheng and Xiao Yu.
Author contributions: Cheng Y and Yu X contributed to the data analysis and writing of the manuscript and they contribute equally to this study as co-first authors; Song ZN, Li MJ and Zhao XR contributed to the data collection and interpretation; Liu Z, Yu Z and Jia XD provided technical support; Zhang FY contributed to the critical revision of the manuscript.
AI contribution statement: AI tools (specifically ChatGPT) were used solely for linguistic refinement and formatting assistance. No AI tool was involved in the generation of research data, interpretation of results, or formulation of conclusions. All AI-generated outputs were critically reviewed and revised by the authors.
Informed consent statement: We obtained informed written consent from the patient to publish this case report and any accompanying Figures.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Corresponding author: Feng-Yan Zhang, Department of Radiotherapy, Liaocheng People’s Hospital, No. 67 Dongchang West Road, Liaocheng 252000, Shandong Province, China. a18653610708@126.com
Received: March 23, 2026 Revised: May 19, 2026 Accepted: June 15, 2026 Published online: July 24, 2026 Processing time: 125 Days and 20.1 Hours
Abstract
BACKGROUND
Ewing’s sarcoma (EWS), which primarily affects young children, and is characterized by rare bone tumors, with occasional metastasis to the brain. However, information on EWS remains limited, particularly concerning gene mutations in adult patients. Consequently, there is a pressing need to identify genetic factors associated with the pathogenesis of EWS to enhance the detection, management, and prevention of this disease.
CASE SUMMARY
Herein, we present the unique case of a middle-aged patient with intracranial EWS. A 51-year-old male was admitted to our hospital for the surgical resection of an intracranial mass. Postoperative pathology confirmed the presence of a small-cell malignant tumor, which was further diagnosed as EWS. Following surgery, the patient was referred to the radiotherapy department to complete his treatment. To identify potential EWS disease-causing gene variants, we performed whole-exome sequencing (WES) analysis using genomic DNA extracted from the patient’s blood and tumor samples. This analysis revealed heterozygous variants in somatic cells, within the neurofibromin 1 [NF1; c.T569A:p.Leu190*(stopgain)] and secreted protein acidic and rich in cysteine (SPARC; c.G764A:p.R255H) genes.
CONCLUSION
WES provided initial evidence supporting the potential involvement of NF1 and SPARC in the pathogenesis of EWS.
Core Tip: Ewing’s sarcoma (EWS) and Ewing’s-like sarcoma represent uncommon and extremely aggressive round cell mesenchymal malignancies. Here, we describe a case of a 51-year-old man with a confirmed diagnosis of EWS. The article introduces the diagnosis and treatment process. The findings from whole-exome sequencing highlighted the plausible impact of neurofibromin 1 and secreted protein acidic and rich in cysteine on EWS progression.
