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

Abstract

Introduction: 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. Case report: 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. Discussion/Conclusion: 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.

Keywords:

• Cellular neurothekeoma
• TFE3
• Spitz nevus
• TFE3 gene translocation

Acknowledgments

We thank Lianyuan Yu for the picture and Meng Zhang for confirming the analysis of FISH results.

Author contributions statement

Yin Cheng and Lejian He designed the study and wrote the article. Nan Zhang, Lejian He, Zhijuan Deng and Yin Cheng reviewed the cases. Xiaoxing Guan did the TFE3 FISH examination. Jiaosheng Xu and Linlin Qu helped collect clinical information of cases.

Disclosure statement

No potential conflict of interest was reported by the authors.

Ethics approval and consent to participate

This study obtained the approval of the ethics committee of Beijing Children’s Hospital. Written informed consent was obtained from the patient.

Additional information

Funding

None.