Ependymoma with C11orf95-MAML2 fusion: presenting with granular cell and ganglion cell features


C11orf95-RELA fusion or, less frequently, YAP1 fusion is recurrently detected in most cases of supratentorial ependymoma. Other fusions have rarely been reported in some cases of supratentorial ependymoma, and little is known about their pathological or clinical features. Here, we present a case of supratentorial ependymoma with unusual pathological findings and C11orf95-MAML2 fusion. A 23-year-old man was admitted to our hospital because of headache and vomiting. Magnetic resonance imaging revealed a cystic lesion in the right frontal lobe, and gross total resection of the tumor was performed. Pathologically, the tumor was mainly composed of typical ependymal lesions with perivascular pseudorosettes and contained some atypical lesions, with granular and ganglion cell features. The tumor was diagnosed as anaplastic ependymoma, which was classified as grade III on the World Health Organization scale, and found to be RELA fusion-positive in the DNA methylation analysis. However, the tumor was negative for C11orf95-RELA fusion, and RNA sequencing detected C11orf95-MAML2 fusion. The patient has not received adjuvant therapy and has remained alive without any evidence of disease for 30 months, suggesting that the prognosis might be better than that of typical C11orf95-RELA fusion-positive ependymoma.

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Complementary deoxyribonucleic acid


Epithelial membrane antigen


Glial fibrillary acidic protein


L1 cell adhesion molecule


Periodic acid-Schiff


Polymerase chain reaction


Reverse transcriptase polymerase chain reaction


Tris Buffered Saline—Tween


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We would like to thank Erika Komura and Anri Machi for preparing slides and performing immunohistochemistry, and Mai-Honda Kitahara for performing molecular analysis.


This research did not receive any specific grant funding agencies in the public, commercial, or non-for-profit sectors.

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Correspondence to Masashi Kinoshita.

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Supplementary Figure 1

: Enlarged image of the brain tumor. A Pseudo perivascular rosettes consist of typical ependymal lesions. B Clear cells contain perinuclear halo. Scale bars: 100 µm (A, B) (TIF 6297 KB)

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Tamai, S., Nakano, Y., Kinoshita, M. et al. Ependymoma with C11orf95-MAML2 fusion: presenting with granular cell and ganglion cell features. Brain Tumor Pathol (2020). https://doi.org/10.1007/s10014-020-00388-6

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  • Ependymoma
  • C11orf95-MAML2
  • Granular cell feature
  • Ganglion cell feature