Renal cell carcinoma associated with Xp11.2 translocation/transcription factor E3 gene fusion: an adult case report and literature review

Yuxiong Wang; Yuantao Wang; Mingliang Feng; Xin Lian; Yongsheng Lei; Honglan Zhou

doi:10.1177/0300060520942095

Renal cell carcinoma associated with Xp11.2 translocation/transcription factor E3 gene fusion: an adult case report and literature review

J Int Med Res. 2020 Oct;48(10):300060520942095. doi: 10.1177/0300060520942095.

Authors

Yuxiong Wang¹, Yuantao Wang¹, Mingliang Feng¹, Xin Lian¹, Yongsheng Lei¹, Honglan Zhou¹

Affiliation

¹ The Second Department of Urology, The First Hospital of Jilin University, Changchun, Jilin, China.

Abstract

Renal cell carcinoma (RCC) associated with Xp11.2 translocation/transcription factor E3 (TFE3) gene fusion is a rare and independent subtype of RCC included in the classification of MiT (microphthalmia-associated transcriptional factor) family translocation RCC. Herein, we report an adult case of Xp11.2 translocation RCC, and review the relevant literature to improve our understanding of the pathogenesis, epidemiology, clinical manifestations, diagnosis, differential diagnosis, treatment, and other aspects of the disease.

Keywords: TFE3+; Xp11.2/TFE3 associated renal cell carcinoma; chromosomal rearrangement; fluorescence in situ hybridization; immunohistochemical staining; prognosis.

Publication types

Case Reports
Review

MeSH terms

Adult
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics
Carcinoma, Renal Cell* / diagnosis
Carcinoma, Renal Cell* / genetics
Chromosomes, Human, X / genetics
Gene Fusion
Humans
In Situ Hybridization, Fluorescence
Kidney Neoplasms* / diagnostic imaging
Kidney Neoplasms* / genetics
Translocation, Genetic

Substances

Basic Helix-Loop-Helix Leucine Zipper Transcription Factors