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Review of ependymomas: assessment of consensus in pathological diagnosis and correlations with genetic profiles and outcome

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Abstract

We focused on histological and immunohistochemical characteristics of ependymoma (EPN) with molecular profiles to develop more reproducible criteria of the diagnosis. Three expert neuropathologists reviewed the pathology of 130 samples from the Japan Pediatric Molecular Neuro-Oncology Group study. Confirmed cases were assessed for histology, surrogate markers, molecular subgrou**, and survival data. We reached a consensus regarding the diagnosis of EPNs in 100% of spinal cord tumors and 93% of posterior fossa (PF) tumors that had been diagnosed as EPNs by local pathologists, whereas we reached a consensus regarding only 77% of the local diagnosis of supratentorial (ST) EPNs. Among the PF-EPNs, most of anaplastic ependymomas (AEPNs) were defined as EPN-A by methylation profiling, which was significantly correlated with the subgroup assignment. Regarding prognosis, the overall survival of patients with PF-EPN was significantly better than that of patients with PF AEPN (p = 0.01). Histologically, all ependymoma, RELA fusion-positive (EPN-RELA) qualified as Grade III. Both L1 cell adhesion molecule and nuclear factor kappaB p65 antibodies showed good sensitivity for detecting EPN-RELA. This study indicated that the expert consensus pathological diagnosis could correlate well with the molecular classifications in EPNs. ST EPNs should be diagnosed more carefully by histological and molecular analyses.

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Acknowledgements

We thank the following individuals for their comments regarding pathological diagnosis: Takashi Komori, Makoto Shibuya, Hiroyoshi Suzuki, and Shinya Tanaka. The authors also thank Tomio Honma and Toshinori Nagai for their excellent technical assistance.

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Authors and Affiliations

  1. Department of Pathology, Saitama Medical University, 38 Morohongo, Moroyama-machi, Saitama, 350-0495, Japan

    Atsushi Sasaki & Naohito Hashimoto

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

    Junko Hirato

  3. Department of Pathology for Regional Communication, Kobe University, Kobe, Hyogo, Japan

    Takanori Hirose

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

    Kohei Fukuoka & Koichi Ichimura

  5. Department of Neurosurgery and Institute for Clinical Research, Osaka National Hospital, Osaka, Japan

    Yonehiro Kanemura

  6. Department of Pathology and Applied Neurobiology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan

    Yoshinori Kodama

  7. Department of Pediatric Neurosurgery, Osaka City General Hospital, Osaka, Japan

    Hiroaki Sakamoto

  8. Department of Neuro-Oncology/Neurosurgery, Saitama Medical University International Medical Center, Saitama, Japan

    Ryo Nishikawa

  9. Japan Pediatric Molecular Neuro-Oncology Group (JPMNG), Tokyo, Japan

    Kohei Fukuoka, Yonehiro Kanemura, Koichi Ichimura, Hiroaki Sakamoto & Ryo Nishikawa

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  1. Atsushi Sasaki
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Correspondence to Atsushi Sasaki.

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Sasaki, A., Hirato, J., Hirose, T. et al. Review of ependymomas: assessment of consensus in pathological diagnosis and correlations with genetic profiles and outcome. Brain Tumor Pathol 36, 92–101 (2019). https://doi.org/10.1007/s10014-019-00338-x

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  • DOI: https://doi.org/10.1007/s10014-019-00338-x

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