Renal Cell Carcinoma Associated with Xp11.2 Translocation/Transcription Factor E3 (TFE3) FusionBorislav A. Alexiev*
Department of Pathology, University of Maryland Medical Center, USA
- *Corresponding Author:
- Borislav A. Alexiev
Department of Pathology, NBW85
University of Maryland Medical Center
22 S Greene Street, Baltimore 21201, MD, USA
E-mail: [email protected]
Received date: May 03, 2013; Accepted date: May 15, 2013; Published date: May 20, 2013
Citation: Alexiev BA (2013) Renal Cell Carcinoma Associated with Xp11.2 Translocation/Transcription Factor E3 (TFE3) Fusion. J Cytol Histol 4:173. doi: 10.4172/2157-7099.1000173
Copyright: © 2013 Alexiev BA. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Renal cell carcinomas (RCC) associated with Xp11.2 translocations (Xp11.2 TRCCs) form a new and little known entity of the WHO 2004 classification [1-23]. de Jong et al.  and Tomlinson et al  first described Xp11 translocation as a previously unknown finding in the karyotype of two atypical renal masses presenting in infant males . These neoplasms are defined by several translocations involving the transcription factor 3 (TFE3) gene that is located on chromosome Xp11.2, resulting in a gene fusion between TFE3 and at least 5 possible partners [3-7,16,18,21,23]. These include a distinctive RCC which bears a translocation with the identical chromosomal breakpoints (Xp11.2, 17q25) and identical resulting ASPL-TFE3 gene fusion as alveolar soft part sarcoma (ASPS), with the distinction that the t(X;17) translocation is cytogenetically balanced in these renal tumors . The most commonly observed translocations are t(X;17)(p11.2;q25), t(X;1) (p11.2;p34), and t(X;1)(p11.2;q21), which lead to gene fusions of TFE3 with ASPL, PSF, and PRCC, respectively [3,15,16]. This review aims to highlight the helpful histologic, immunohistochemical, and cytogenetic features of this entity to enable correct diagnosis.