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A case of primary CNS embryonal rhabdomyosarcoma with PAX3-NCOA2 fusion and systematic meta-review

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Abstract

Purpose

Primary central nervous system (CNS) rhabdomyosarcoma is a rare mesenchymal tumor predominantly seen in children and associated with a poor outcome. We report a case of primary CNS rhabdomyosarcoma with PAX3-NCOA2 fusion and present a systematic meta-review of primary CNS rhabdomyosarcoma to characterize this rare tumor.

Methods

We present the case of a 6-year-old boy with primary CNS rhabdomyosarcoma in the posterior fossa. In a systematic meta-review, we compare the demographic data of primary CNS rhabdomyosarcoma with data of rhabdomyosarcoma at all sites from the SEER database and analyze clinical factors associated with survival outcome.

Results

Our patient underwent gross total resection and received vincristine, actinomycin-D, cyclophosphamide with early introduction of concurrent focal radiation and remained alive with no evidence of disease for 2 years after the end of therapy. Histopathological review revealed embryonal-type rhabdomyosarcoma, and whole-transcriptome analysis revealed PAX3 (EX6)-NCOA2 (EX12) fusion. In all, 77 cases of primary CNS rhabdomyosarcoma were identified through the meta-review. The demographic data of primary CNS rhabdomyosarcoma were similar to data of rhabdomyosarcoma at all sites. Overall and event-free survival outcomes were available for 64 and 56 patients, respectively, with a 3-year OS of 29.0% and a 3-year EFS of 25.7%. The group that received trimodal treatment exhibited better survival outcomes, with a 3-year OS of 57.4% and a 3-year EFS of 46.3%.

Conclusions

Primary CNS rhabdomyosarcoma shares common histological, molecular, and demographic features with non-CNS rhabdomyosarcoma. A trimodal treatment approach with early introduction of radiation therapy may result in favorable survival outcomes.

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Data availability

The datasets generated during and/or analyzed during the current study are available in the Supplemental Table 1.

Code availability

The software and codes used during the current study is available and shown in the method section.

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Funding

This research was supported by AMED under Grant Number JP21cm0106509.

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Authors and Affiliations

  1. Division of Hem/Onc/BMT, Department of Pediatrics, Medical College of Wisconsin, 8701 Watertown Plank Road, MFRC3018, Milwaukee, WI, 53226, USA

    Ryuma Tanaka

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

    Ryuma Tanaka, Kyohei Inoue, Yuji Yamada, Haruko Shima, Jumpei Ito & Hiroyuki Shimada

  3. Department of Pediatric Hematology and Oncology Research, National Center for Child Health and Development, Tokyo, Japan

    Yuji Yamada, Masanori Yoshida & Motohiro Kato

  4. Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan

    Masanori Yoshida

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

    Hajime Okita

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

    Tomoru Miwa

  7. Department of Pediatrics, The University of Tokyo, Tokyo, Japan

    Motohiro Kato

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  1. Ryuma Tanaka
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Contributions

Conceptualization: RT, KI; Methodology: RT, KI, YY, MY, TM, MK; Formal analysis and investigation: RT, YY, MY, HS, JI, HO; Writing original draft preparation: RT, KI, MY; Writing review and editing: RT, HS, JI, HO, TM, MK, HS; Supervision: TM, MK, HS.

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Correspondence to Ryuma Tanaka.

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Tanaka, R., Inoue, K., Yamada, Y. et al. A case of primary CNS embryonal rhabdomyosarcoma with PAX3-NCOA2 fusion and systematic meta-review. J Neurooncol 154, 247–256 (2021). https://doi.org/10.1007/s11060-021-03823-6

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