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Central nervous system ganglioneuroblastoma harboring MYO5A-NTRK3 fusion

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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.

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Acknowledgements

The authors would like to thank the patient and his family for participating in this research. We also thank Takako Yoshioka for her support in diagnosis and M. Honda-Kitahara and Yuko Hibiya for their technical assistance. This work was supported in part by the Japan Children’s Cancer Group (JCCG) and by Japan Society for the Promotion of Science (JSPS) Grants-in-Aid for Scientific Research (KAKENHI) (Grant Number JP20K16873).

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Authors and Affiliations

  1. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan

    Jumpei Ito, Haruko Shima, Kyohei Isshiki, Fumito Yamazaki & Hiroyuki Shimada

  2. Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan

    Yoshiko Nakano & Koichi Ichimura

  3. Department of Neurosurgery, Keio University School of Medicine, Tokyo, Japan

    Tomoru Miwa, Yumiko Oishi & Yukina Morimoto

  4. Division of Molecular Oncology, National Cancer Center Research Institute, Tokyo, Japan

    Yasunori Kogure & Keisuke Kataoka

  5. Division of Diagnostic Pathology, Keio University School of Medicine, Tokyo, Japan

    Hajime Okita

  6. Department of Pathology, Gunma University Hospital, Maebashi, Japan

    Junko Hirato

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  1. Jumpei Ito
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  2. Yoshiko Nakano
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  3. Haruko Shima
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  4. Tomoru Miwa
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  11. Hajime Okita
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  14. Hiroyuki Shimada
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Correspondence to Yoshiko Nakano.

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Ito, J., Nakano, Y., Shima, H. et al. Central nervous system ganglioneuroblastoma harboring MYO5A-NTRK3 fusion. Brain Tumor Pathol 37, 105–110 (2020). https://doi.org/10.1007/s10014-020-00371-1

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  • DOI: https://doi.org/10.1007/s10014-020-00371-1

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