Ependymoma with C11orf95-MAML2 fusion: presenting with granular cell and ganglion cell features
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CASE REPORT
Ependymoma with C11orf95‑MAML2 fusion: presenting with granular cell and ganglion cell features Sho Tamai1 · Yoshiko Nakano2 · Masashi Kinoshita1 · Hemragul Sabit1 · Sumihito Nobusawa3 · Yasuhito Arai4 · Natsuko Hama4 · Yasushi Totoki4 · Tatsuhiro Shibata4 · Koichi Ichimura2 · Mitsutoshi Nakada1 Received: 10 September 2020 / Accepted: 3 November 2020 © The Japan Society of Brain Tumor Pathology 2020
Abstract 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 C11orf95MAML2 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. Keywords Ependymoma · C11orf95-MAML2 · Granular cell feature · Ganglion cell feature Abbreviations cDNA Complementary deoxyribonucleic acid EMA Epithelial membrane antigen GFAP Glial fibrillary acidic protein L1CAM L1 cell adhesion molecule PAS Periodic acid-Schiff PCR Polymerase chain reaction
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10014-020-00388-6) contains supplementary material, which is available to authorized users. * Masashi Kinoshita m‑[email protected]‑u.ac.jp 1
RT-PCR Reverse transcriptase polymerase chain reaction TBS-T Tris Buffered Saline—Tween
Introduction Ependymoma accounts for 2% of all primary neoplasms of the central nervous system [1]. C11orf95-RELA fusion is detected in most cases of supratentorial ependymoma, while mutually exclusively YAP1 fusion is detected in some cases [2–6]. Pathologically diagnosed supratentorial ependymoma without these recurrent fusions have rarely been reported. Herein, we present a case of supratentorial ependymoma with C11orf95-MAML2 fusion with granular and ganglion cell features.
Department of Neurosurgery, Kanazawa University, 13‑1 Takara‑machi, Kanazawa, Ishikawa 920‑8641, Japan
2
Department of Brain Tumor Translational Research, National Cancer Center Research Instit
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