Jing Liu, Dongjin Sun, Fan Lin, Yun Li, Tingting Wu, Xia Liu
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An EWSR1-EZHIP fusion in a cerebral hemisphere astroblastoma.
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.
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.