An EWSR1-EZHIP fusion in a cerebral hemisphere astroblastoma.

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Neuropathology Pub Date : 2023-08-01 DOI:10.1111/neup.12893

Jing Liu, Dongjin Sun, Fan Lin, Yun Li, Tingting Wu, Xia Liu

引用次数: 0

Abstract

Astroblastomas are considered extremely rare tumors and have not been formally graded. While gene mutations are used to diagnose these tumors, further research is needed for proper diagnosis and classification. This report presents a case of astroblastoma in a 44-year-old woman. A tumor was found to have histology consistent with astroblastoma, with no MN1 gene changes. Several mutations were present, and fusion of the EWSR1 and EZHIP genes was noted, which has never been reported before in the literature. Fusions of the EWSR1 gene could be characteristics of astroblastomas, in addition to MN1 alterations, and identification of these mutations could help in the diagnosis of these rare tumors.

查看原文本刊更多论文

脑半球星形母细胞瘤中的EWSR1-EZHIP融合。

星形母细胞瘤被认为是极其罕见的肿瘤，尚未正式分级。虽然基因突变被用来诊断这些肿瘤，但正确的诊断和分类需要进一步的研究。本文报告一例星形母细胞瘤，患者为44岁女性。发现肿瘤组织学与星状母细胞瘤一致，未见MN1基因改变。存在几个突变，并且注意到EWSR1和EZHIP基因的融合，这在以前的文献中从未报道过。除了MN1突变外，EWSR1基因的融合可能是星状母细胞瘤的特征，鉴定这些突变有助于这些罕见肿瘤的诊断。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Neuropathology 医学-病理学

CiteScore

4.10

自引率

4.30%

发文量

105

审稿时长

6-12 weeks

期刊介绍： Neuropathology is an international journal sponsored by the Japanese Society of Neuropathology and publishes peer-reviewed original papers dealing with all aspects of human and experimental neuropathology and related fields of research. The Journal aims to promote the international exchange of results and encourages authors from all countries to submit papers in the following categories: Original Articles, Case Reports, Short Communications, Occasional Reviews, Editorials and Letters to the Editor. All articles are peer-reviewed by at least two researchers expert in the field of the submitted paper.