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01-10-2021 | Ependymoma | Case Report

Spinal cord astroblastoma with EWSR1-BEND2 fusion classified as HGNET-MN1 by methylation classification: a case report

Authors: Takeyoshi Tsutsui, Yoshiki Arakawa, Yasuhide Makino, Hiroharu Kataoka, Yohei Mineharu, Kentaro Naito, Sachiko Minamiguchi, Takanori Hirose, Sumihito Nobusawa, Yoshiko Nakano, Koichi Ichimura, Hironori Haga, Susumu Miyamoto

Published in: Brain Tumor Pathology | Issue 4/2021

Abstract

The most recurrent fusion of central nervous system high-grade neuroepithelial tumor with MN1 alteration (HGNET-MN1) is MN1 rearrangement. Here, we report the case of a 36-year-old man with spinal cord astroblastoma showing Ewing Sarcoma breakpoint region 1/EWS RNA-binding protein 1 (EWSR1)-BEN domain-containing 2 (BEND2) fusion. The patient presented with back pain, gait disturbance and dysesthesia in the lower extremities and trunk. Magnetic resonance imaging showed an intramedullary tumor at the T3–5 level, displaying homogeneous gadolinium enhancement. Partial tumor removal was performed with laminectomy. Histological examinations demonstrated solid growth of epithelioid tumor cells showing high cellularity, a pseudopapillary structure, intervening hyalinized fibrous stroma, and some mitoses. Astroblastoma was diagnosed, classified as HGNET-MN1 by the German Cancer Research Center methylation classifier. MN1 alteration was not detected by fluorescence in situ hybridization (FISH), but EWSR1-BEND2 fusion was detected by FISH and RNA sequencing. Previously, a child with EWSR1-BEND2 fusion-positive spinal astroblastoma classified as HGNET-MN1 was reported. In conjunction with that, the present case provides evidence that EWSR1-BEND2 fusion is identified in the entity of HGNET-MN1. Taken together, the BEND2 alteration rather than MN1 may determine the biology of a subset of the central nervous system HGNET-MN1 subclass.

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Title: Spinal cord astroblastoma with EWSR1-BEND2 fusion classified as HGNET-MN1 by methylation classification: a case report
Authors: Takeyoshi Tsutsui
Yoshiki Arakawa
Yasuhide Makino
Hiroharu Kataoka
Yohei Mineharu
Kentaro Naito
Sachiko Minamiguchi
Takanori Hirose
Sumihito Nobusawa
Yoshiko Nakano
Koichi Ichimura
Hironori Haga
Susumu Miyamoto
Publication date: 01-10-2021
Publisher: Springer Singapore
Keywords: Ependymoma
Fluorescence in Situ Hybridization
Ependymoma
Spinal Tumor
Sarcoma
Ependymoma
Published in: Brain Tumor Pathology / Issue 4/2021
Print ISSN: 1433-7398
Electronic ISSN: 1861-387X
DOI: https://doi.org/10.1007/s10014-021-00412-3

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