Central nervous system (CNS) ganglioneuroblastoma is a rare neuroectodermal neoplasm and little is known about its clinical and biological features. Herein, we report a pediatric case of CNS ganglioneuroblastoma harboring MYO5A-NTRK3 fusion. The patient, a 4-year-old boy, underwent a partial resection of a supratentorial tumor that was histopathologically diagnosed as a CNS ganglioneuroblastoma. Treatment with radiotherapy was started per the St Jude Medulloblastoma 03 (SJMB03) protocol; however, the tumor progressed rapidly and radiotherapy was temporally discontinued. Meanwhile, the patient underwent a second surgery, in which a gross total resection was successfully performed, following which he completed the remaining protocol-based therapy. Although an early focal recurrence was detected for which he received additional radiotherapy and oral temozolomide, the patient remained in complete remission for 14 months after the completion of the treatment. A central pathological review and molecular analysis were performed that revealed a MYO5A-NTRK3 fusion. Interestingly, the MYO5A-NTRK3 fusion has been recurrently detected in melanocytic tumors but not in other types of tumors. Therefore, it can be speculated that our case might partly share tumorigenesis mechanisms with MYO5A-NTRK3-positive melanocytic tumors. In addition, our case may enable an improved understanding of the pathogenesis and clinical features of CNS ganglioneuroblastomas.

中文翻译：

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具有MYO5A-NTRK3融合的中枢神经系统神经节神经母细胞瘤。

中枢神经系统（CNS）神经节神经母细胞瘤是一种罕见的神经外胚层肿瘤，对其临床和生物学特征知之甚少。在此，我们报告了一例携带MYO5A-NTRK3的中枢神经节神经母细胞瘤的小儿病例融合。该患者是一个4岁男孩，接受了部分上皮肿瘤的切除，该上皮肿瘤在组织病理学上被诊断为CNS神经节神经母细胞瘤。根据St Jude髓母细胞瘤03（SJMB03）方案开始放射治疗。但是，肿瘤进展迅速，放疗暂时中断。同时，该患者进行了第二次手术，成功地进行了全切除术，随后他完成了剩余的基于方案的治疗。尽管检测到早期局灶性复发，他接受了额外的放疗和口服替莫唑胺治疗，但患者在治疗完成后仍保持完全缓解14个月。进行了中央病理检查和分子分析，发现MYO5A-NTRK3融合。有趣的是，MYO5A-NTRK3融合体已在黑素细胞性肿瘤中被反复检测到，但在其他类型的肿瘤中却未被检测到。因此，可以推测我们的病例可能与MYO5A-NTRK3阳性的黑素细胞性肿瘤部分共享肿瘤发生机制。此外，我们的病例可能使人们对中枢神经系统神经节神经母细胞瘤的发病机理和临床特征有了更好的了解。