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Central nervous system ganglioneuroblastoma harboring MYO5A-NTRK3 fusion

中枢神经系统神经节细胞瘤 MYO5A-NTRK3 融合

  • 影响因子:2.86
  • DOI:10.1007/s10014-020-00371-1
  • 作者列表:"Ito, Jumpei","Nakano, Yoshiko","Shima, Haruko","Miwa, Tomoru","Kogure, Yasunori","Isshiki, Kyohei","Yamazaki, Fumito","Oishi, Yumiko","Morimoto, Yukina","Kataoka, Keisuke","Okita, Hajime","Hirato, Junko","Ichimura, Koichi","Shimada, Hiroyuki
  • 发表时间:2020-06-18
Abstract

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.

摘要

中枢神经系统 (CNS) 节细胞神经母细胞瘤是一种罕见的神经外胚层肿瘤,其临床和生物学特征知之甚少。在此,我们报告一例携带 MYO5A-NTRK3 融合的 CNS 节细胞神经母细胞瘤的儿科病例。患者,4 岁男孩,接受了幕上肿瘤的部分切除,组织病理学诊断为 CNS 神经节神经母细胞瘤。根据 St Jude 髓母细胞瘤 03 (SJMB03) 方案开始放疗; 然而,肿瘤进展迅速,放疗暂时停止。同时,患者接受了第二次手术,成功进行了大体全切除,随后完成了剩余的基于方案的治疗。虽然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,但患者在治疗完成后保持完全缓解 14 个月。进行了中心病理检查和分子分析,发现融合 MYO5A-NTRK3。有趣的是,在黑色素细胞肿瘤中反复检测到 MYO5A-NTRK3 融合,但在其他类型的肿瘤中没有。因此,可以推测我们的病例可能与 MYO5A-NTRK3 阳性黑素细胞肿瘤部分相同的肿瘤发生机制。此外,我们的病例可能有助于更好地了解 CNS 节细胞神经母细胞瘤的发病机制和临床特征。

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