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

IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY
Brain Tumor Pathology Pub Date : 2021-10-01 Epub Date: 2021-07-27 DOI:10.1007/s10014-021-00412-3
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
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引用次数: 12

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.

EWSR1-BEND2融合脊髓星形母细胞瘤经甲基化分类为HGNET-MN1 1例
伴有MN1改变的中枢神经系统高级别神经上皮肿瘤(HGNET-MN1)最常复发的融合是MN1重排。在这里,我们报告一例36岁男性脊髓星形母细胞瘤,显示尤文氏肉瘤断点区1/EWS rna结合蛋白1 (EWSR1)-含ben结构域2 (BEND2)融合。患者表现为背部疼痛,步态障碍,下肢和躯干感觉异常。磁共振示T3-5水平髓内肿瘤,呈均匀钆强化。部分肿瘤切除行椎板切除术。组织学检查显示实性上皮样肿瘤细胞呈高细胞性,假乳头状结构,中间有透明化的纤维间质和一些有丝分裂。确诊为星形母细胞瘤,经德国癌症研究中心甲基化分类器分类为HGNET-MN1。荧光原位杂交(FISH)未检测到MN1的改变,但通过FISH和RNA测序检测到EWSR1-BEND2融合。此前,报道了一名患有EWSR1-BEND2融合阳性脊柱星形母细胞瘤的儿童,分类为HGNET-MN1。与此同时,本病例提供了证据,证明在HGNET-MN1实体中发现了EWSR1-BEND2融合。综上所述,BEND2的改变而不是MN1的改变可能决定中枢神经系统HGNET-MN1亚类的生物学特性。
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来源期刊
Brain Tumor Pathology
Brain Tumor Pathology 医学-病理学
CiteScore
5.40
自引率
9.10%
发文量
30
审稿时长
>12 weeks
期刊介绍: Brain Tumor Pathology is the official journal of the Japan Society of Brain Tumor Pathology. This international journal documents the latest research and topical debate in all clinical and experimental fields relating to brain tumors, especially brain tumor pathology. The journal has been published since 1983 and has been recognized worldwide as a unique journal of high quality. The journal welcomes the submission of manuscripts from any country. Membership in the society is not a prerequisite for submission. The journal publishes original articles, case reports, rapid short communications, instructional lectures, review articles, letters to the editor, and topics.Review articles and Topics may be recommended at the annual meeting of the Japan Society of Brain Tumor Pathology. All contributions should be aimed at promoting international scientific collaboration.
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