Clinicopathological analysis of children with Xp11.2 translocation/ TFE3 gene fusion associated renal cell carcinoma
10.3760/cma.j.cn101070-20200423-00713
- VernacularTitle:儿童Xp11.2易位/ TFE3基因融合相关性肾细胞癌的临床病理分析
- Author:
Yun BAI
1
;
Cai HE
;
Ping XIAO
;
Dan LIU
;
Jizhen ZOU
Author Information
1. 首都儿科研究所附属儿童医院病理科，北京 100020
- Keywords:
Xp11.2 translocation/TFE3 gene fusion associated renal cell carcinoma;
Child;
Fluorescence in situ hybridization;
Immunohistochemistry
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(16):1267-1270
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summary the problems that may be encountered in the diagnosis of Xp11.2 translocation/TFE3 gene fusion associated renal cell carcinomas (Xp11 RCC) and to improve the understanding and diagnostic level.Methods:The clinical and pathological data of 5 children with Xp11 RCC pathologically diagnosed in Children′s Hospital of Capital Institute of Pediatrics from January 2015 to December 2019 were collected for retrospective analysis.Results:The 5 cases included 2 males and 3 females with the age of 4-8 years old.All cases presented with abdominal mass.Four cases received radical nephrectomy and radical tumor resection, and 1 case received simple tumor resection after related examination.Routine HE staining, immunohistochemical staining and fluorescence in situ hybridi-zation (FISH) were performed after surgery.The histological morphology of tumor was varied, and the tumor cells were arranged in nest flake, acinar or papillary pattern, with abundant cytoplasm form completely transparent to eosinophilic staining (pink), and gravel-like calcification was visible.Micropapillary arranged tumor cells appeared in 1 case besides classic pattern; in another case, the tumor cells were highly eosinophilic with abundant cytoplasm and visible round or elliptic eosinophilic bodies.The tumor cells in 5 cases showed diffuse and strong expression of TFE3, and FISH assay showed abnormal separation signal.Conclusions:Xp11 RCC is a relatively rare renal malignant tumor with diverse histological morphology, which should be distinguished from other common renal tumors in children.Its immunohistochemical expression and molecular detection are of specificity, and it should be diagnosed based on clinical incidence.
