Neuroepithelial tumor with EWSR1 translocation of central nervous system:a clinicopathological analysis of six cases
10.13315/j.cnki.cjcep.2024.05.011
- VernacularTitle:伴EWSR1易位的神经上皮肿瘤6例临床病理学分析
- Author:
Danmei ZHOU
1
;
Xueling QI
;
Shujing ZHENG
;
Xingfu WANG
;
Yin WANG
;
Feng TANG
;
Ji XIONG
;
Zunguo DU
Author Information
1. 复旦大学附属华山医院病理科,上海 200040
- Keywords:
neuroepithelial tumor;
EWSR1;
translocation;
im-munohistochemistry
- From:
Chinese Journal of Clinical and Experimental Pathology
2024;40(5):503-508
- CountryChina
- Language:Chinese
-
Abstract:
Purpose To investigate the clinical,imaging,pathological,and genetic characteristics of neuroepithelial tumors with EWSR1 translocation.Methods The clinicopatho-logical data of 6 patients with EWSR1 translocation in neuroepi-thelial tumors were collected,routine HE and immunohistochem-ical staining were performed,the information of high-throughput sequencing was summarized,and the relevant literature was re-viewed.Results The median age of the 6 patients was 11.5 years(ranging from 1.9 to 17 years),including 1 male and 5 females.The tumors located in temporal lobe,frontal lobe,pari-etal lobe,suprasellar region,or lateral ventricle.The clinical manifestations mainly started with seizures.Brain MRI showed abnormal signal focus in the cerebral hemisphere near the cortex in 4 cases,and ventricle/periventricular regions in 2 cases,with an almost clear boundary in 5 cases.Microscopically,the histo-logical changes were diverse,including low-grade gliomas/gli-oneuronal tumors in 3 cases,high-grade gliomas in 2 cases,and glioneuronal tumor with high-grade feature in 1 case.Immuno-histochemically,tumor cells expressed GFAP,S-100,Syn,and Olig2 partially.2 cases exhibited slightly positive of NeuN and 1 case exhibited little dot-like staining of EMA.Next generation sequencing revealed EWSR1 rearrangement in all 6 cases,with chaperone genes including PATZ1 in 5 cases,and PLAGL1 in 1 case.3 cases were treated with chemotherapy after surgery,and no recurrence or progression was found during follow-up.Con-clusion The neuroepithelial tumors with the fusion of EWSR1 and non-ETS commonly occur in the cerebral hemisphere of teenagers and children.Most of the boundaries lesion are still clear,the histomorphological spectrum is diverse,and the bio-logical behavior is presented as a low to moderate malignancy,which provides the possibility for expanding the molecular classi-fication of CNS neuroepithelial tumor.
