TFE3 在细胞型和黏液样型神经鞘瘤中的表达：4 例儿童和青少年病例。

Expression of TFE3 in Cellular and Myxoid Type of Neurothekeoma: Four Cases in Young Children and Adolescents.

机构信息

Department of Pathology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

出版信息

Fetal Pediatr Pathol. 2023 Aug;42(4):679-684. doi: 10.1080/15513815.2023.2181626. Epub 2023 Feb 21.

DOI:10.1080/15513815.2023.2181626

PMID:36802993

Abstract

Cellular neurothekeoma is a benign tumor that mainly occurs in young children and adolescents. The aberrant expression of transcription factor E3 (TFE3) has not been reported in cellular neurothekeoma previously. We report four cellular neurothekeoma with aberrant immunohistochemical expression of TFE3 protein. The fluorescence in situ hybridization (FISH) showed no TFE3 gene rearrangement or amplification. TEF3 protein expression may not be related to TFE3 gene translocation in cellular neurothekeoma. TFE3 may be a potential pitfall in diagnosis, for several malignant tumors in children also express TFE3. The aberrant expression of TFE3 may offer insights into cellular neurothekeoma etiology, and associated molecular mechanisms.

摘要

细胞神经鞘瘤是一种主要发生在婴幼儿的良性肿瘤。先前的研究并未报道转录因子 E3（TFE3）在细胞神经鞘瘤中的异常表达。我们报告了 4 例具有 TFE3 蛋白免疫组织化学异常表达的细胞神经鞘瘤。荧光原位杂交（FISH）显示 TFE3 基因无重排或扩增。TFE3 蛋白表达与细胞神经鞘瘤中的 TFE3 基因易位可能无关。TFE3 可能是诊断中的一个潜在陷阱，因为儿童中的几种恶性肿瘤也表达 TFE3。TFE3 的异常表达可能为细胞神经鞘瘤的病因及其相关分子机制提供新的见解。