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Xp11.2 Translocation Renal Cell Carcinoma With PSF-TFE3 Rearrangement

Zhong, Minghao MD, PhD*; Weisman, Paul MD*; Zhu, Bing MD, PhD*; Brassesco, Maria PhD; Yang, Youfeng MS; Linehan, W. Marston MD; Merino, Maria J. MD§; Zhang, David MD, PhD; Rohan, Stephen MD*; Cai, Dongming MD, PhD; Yang, Ximing MD, PhD*

Diagnostic Molecular Pathology: June 2013 - Volume 22 - Issue 2 - p 107–111
doi: 10.1097/PDM.0b013e318278962e
Case Report
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Xp11.2 translocation renal cell carcinoma (Xp11.2 RCC) is a subtype of RCC characterized by translocations involving a breakpoint at the TFE3 gene (Xp11.2). Moderate to strong nuclear TFE3 immunoreactivity has been recognized as a specific diagnostic marker for this type of tumor. However, exclusive cytoplasmic localization of a TFE3 fusion protein was reported in UOK 145 cells, a cell line derived from an Xp11.2 RCC harboring the PSF-TFE3 translocation. If reproducible using immunohistochemistry (IHC), this finding would have important implications for pathologists in the diagnosis of Xp11.2 RCC, calling into question the specificity of nuclear immunoreactivity for TFE3 in these tumors. The purpose of this study was to determine whether the above-noted cytoplasmic localization of the TFE3 fusion protein could be reproduced using IHC. UOK 145 cells and fresh frozen tissue from 2 clinical cases of Xp11.2 RCC found to harbor the PSF-TFE3 gene rearrangement (by cytogenetic testing) were collected. All samples were subjected to histopathologic evaluation by board-certified pathologists, TFE3 IHC, reverse transcription polymerase chain reaction, and Sanger sequencing analysis. A strong nuclear TFE3 immunoreactivity was demonstrated in all samples including the UOK 145 cell line. No cytoplasmic immunoreactivity was seen. Reverse transcription polymerase chain reaction and Sanger sequencing confirmed the previously reported PSF-TFE3 gene fusion between exon 9 of PSF and exon 6 of TFE3 in the UOK 145 cell line and in one of 2 clinical cases of Xp11.2 RCC. A novel PSF-TFE3 gene fusion between exon 9 of PSF and exon 5 of TFE3 was detected in the second clinical case of Xp11.2 RCC.

*Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL

Mount Sinai School of Medicine, New York, NY

Department of Pediatrics, University of São Paulo, São Paulo, Brazil

Urologic Oncology Branch

§Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD

The authors declare no conflict of interest.

Reprints: Minghao Zhong, MD, PhD, Department of Pathology, Northwestern University Feinberg School of Medicine, 251 E Huron St, Chicago, IL 60611 (e-mail: minghaozhong@gmail.com).

© 2013 by Lippincott Williams & Wilkins.