Ben Makhlouf Wiem, Kallel Rim, Kolsi Roeya, Kmiha Sana, Ayadi Khalil, Boudawara Tahya
Anatomy and Pathological Cytology Laboratory, Habib Bourguiba University Hospital, Sfax, Tunisia.
Anatomy and Pathological Cytology Laboratory, Habib Bourguiba University Hospital, Sfax, Tunisia.
Int J Surg Case Rep. 2025 Mar;128:111073. doi: 10.1016/j.ijscr.2025.111073. Epub 2025 Feb 18.
Epstein-Barr virus (EBV) is a common virus infecting more than 90 % of the adult population, typically without symptoms. While most infections remain asymptomatic, EBV is associated with over 200,000 new cancer cases annually. It is linked to several malignancies, including leiomyosarcoma (LS) in immunocompromised patients, a rare occurrence with fewer than 100 new cases per year globally. This report highlights the case of an EBV-associated intracranial leiomyosarcoma in a 4-year-old immunodeficient child.
A 4-year-old girl with a history of primary immune deficiency and multiple infections presented with febrile dyspnea. Imaging revealed a right temporo-parietal brain mass, which increased in size over 50 days. Surgical excision was performed, and histological examination showed a tumor with smooth muscle cell characteristics. Immunohistochemical analysis was positive for vimentin and CD99, while EBV genome presence was confirmed by in situ hybridization. The final diagnosis was EBV-associated malignant smooth muscle tumor. The postoperative course was favorable, and chemotherapy was not indicated.
Leiomyosarcoma is extremely rare in immunocompetent children but more common in immunocompromised individuals, where EBV infection plays a significant role in tumor development. Although EBV-related leiomyosarcomas occur more frequently in immunodeficient children, intracranial cases are exceptionally rare. These tumors are often challenging to diagnose due to their undifferentiated appearance. The detection of EBV DNA using in situ hybridization is crucial for confirming the diagnosis. While EBV-associated leiomyosarcomas generally respond well to therapy, the optimal treatment remains unclear, with surgery and radiotherapy being the primary approaches.
EBV-associated smooth muscle tumors are rare but increasing in incidence among immunocompromised patients. Early recognition of EBV infection in smooth muscle tumors, especially in children with immune deficiencies, is vital for diagnosis. Histological and molecular examination, including in situ hybridization, is essential to confirm the presence of EBV. Treatment typically involves complete surgical excision, with chemotherapy's role still uncertain.
爱泼斯坦-巴尔病毒（EBV）是一种常见病毒，感染超过90%的成年人群，通常无明显症状。虽然大多数感染无症状，但EBV每年与超过20万例新发癌症病例相关。它与多种恶性肿瘤有关，包括免疫功能低下患者的平滑肌肉瘤（LS），这种情况很罕见，全球每年新发病例少于100例。本报告重点介绍了一名4岁免疫缺陷儿童发生的EBV相关颅内平滑肌肉瘤病例。
一名有原发性免疫缺陷病史且多次感染的4岁女孩出现发热性呼吸困难。影像学检查发现右侧颞顶叶脑肿块，其大小在50天内增大。进行了手术切除，组织学检查显示肿瘤具有平滑肌细胞特征。免疫组化分析波形蛋白和CD99呈阳性，原位杂交证实存在EBV基因组。最终诊断为EBV相关恶性平滑肌肿瘤。术后病程顺利，未指示进行化疗。
平滑肌肉瘤在免疫功能正常的儿童中极为罕见，但在免疫功能低下的个体中更为常见，其中EBV感染在肿瘤发生中起重要作用。虽然EBV相关平滑肌肉瘤在免疫缺陷儿童中更频繁发生，但颅内病例极为罕见。这些肿瘤由于其未分化的外观，往往难以诊断。使用原位杂交检测EBV DNA对于确诊至关重要。虽然EBV相关平滑肌肉瘤通常对治疗反应良好，但最佳治疗方法仍不明确，手术和放疗是主要治疗方法。
EBV相关平滑肌肉瘤罕见，但在免疫功能低下患者中的发病率正在上升。早期识别平滑肌肉瘤中的EBV感染，尤其是免疫缺陷儿童中的感染，对于诊断至关重要。组织学和分子检查，包括原位杂交，对于确认EBV的存在至关重要。治疗通常包括完整的手术切除，化疗的作用仍不确定。
