Central nervous system ganglioneuroblastoma harboring MYO5A-NTRK3 fusion

Jumpei Ito, Yoshiko Nakano, Haruko Shima, Tomoru Miwa, Yasunori Kogure, Kyohei Isshiki, Fumito Yamazaki, Yumiko Oishi, Yukina Morimoto, Keisuke Kataoka, Hajime Okita, Junko Hirato, Koichi Ichimura, Hiroyuki Shimada

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)105-110
Number of pages6
JournalBrain tumor pathology
Issue number3
Publication statusPublished - 2020 Jul 1


  • Ganglioneuroblastoma
  • Pediatric brain tumor
  • Targetable gene fusion

ASJC Scopus subject areas

  • Oncology
  • Clinical Neurology
  • Cancer Research


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