Neuroepithelial tumors with PATZ1 fusion: a clinicopathological analysis of five cases
10.3760/cma.j.cn112151-20241209-00836
- VernacularTitle:伴有PATZ1融合变异的神经上皮肿瘤5例临床病理学分析
- Author:
Jing FENG
1
;
Zejun DUAN
1
;
Zhong MA
1
;
Lei XIANG
1
;
Zejuan HU
1
;
Xueling QI
1
Author Information
1. 首都医科大学三博脑科医院病理科，北京100093
- Publication Type:Journal Article
- Keywords:
Neoplasms, neuroepithelial;
Gene fusion;
Immunohistochemistry;
PATZ1 gene
- From:
Chinese Journal of Pathology
2025;54(8):812-818
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinicopathological and molecular genetic characteristics of the neuroepithelial tumor with PATZ1 fusion (NET-PATZ1).Methods:Five cases of NET-PATZ1 diagnosed at the Sanbo Brain Hospital of Capital Medical University, Beijing, China from January 2020 to October 2024 were collected. The clinical, prognostic, imaging, histological and immunohistochemical features and the results of next-generation sequencing (DNA and RNA) of these 5 patients were collected and analyzed. Relevant literature was also reviewed for discussion.Results:Among the 5 cases, there were 4 females and 1 male, with a median age of 9.0 (6.5, 15.5) years. The tumors all occurred in the supratentorial cerebral hemispheres, including the frontal lobe, parietal lobe, lateral ventricle, and thalamus. There were diverse histological features. Two cases exhibited the characteristics of high-grade neuroepithelial tumors, while 3 cases showed those of low-grade neuroepithelial tumors. The tumor cells were mostly arranged in a rosette-like pattern around small blood vessel. The background was rich in vascular components or microvascular hyperplasia. Immunohistochemistry showed that the tumor cells diffusely expressed MAP2 and Vimentin, and had various expression of S-100 protein, GFAP, Olig2, NG2 and CD99, and cytoplasmic and perinuclear expression of Syn. At the genomic level, all cases had PATZ1 gene fusion variants, and the gene breakpoints were all located in exon 1. Four cases had fusion with the EWSR1 gene, and 1 case had fusion with the MN1 gene. The 5 patients all underwent craniotomy for tumor resection. The pathological diagnosis was NET-PATZ1. All cases had no recurrence or metastasis at the end of follow-up except that Case 3 developed spinal cord metastasis 11 months after the surgery.Conclusions:NET-PATZ1 is commonly found in children and adolescents, with diverse histological features. The tumor cells typically arrange in rosette-like patterns, and the background is rich in vascular components or microvascular hyperplasia. Tumor cells express glial cell-related markers to varying degrees, and co-expression of NG2 and CD34 is suggestive of its diagnosis. The establishment of a pathological diagnosis relies on the detection of PATZ1 fusion variations through genetic testing or a DNA methylation profile of NET-PATZ1.
