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

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

Author Zhong, Minghao Google Scholar
Weisman, Paul Google Scholar
Zhu, Bing Google Scholar
Brassesco, Maria Google Scholar
Yang, Youfeng Google Scholar
Linehan, Marston Google Scholar
Merino, Maria J. Google Scholar
Zhang, David Google Scholar
Rohan, Stephen Google Scholar
Cai, Dongming Google Scholar
Yang, Ximing Google Scholar
Institution Northwestern Univ
Mt Sinai Sch Med
Universidade Federal de São Paulo (UNIFESP)
Abstract 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.
Keywords PSF-TFE3
Xp11 translocation renal cell carcinoma
chromosomal translocation
Language English
Date 2013-06-01
Published in Diagnostic Molecular Pathology. Philadelphia: Lippincott Williams & Wilkins, v. 22, n. 2, p. 107-111, 2013.
ISSN 1052-9551 (Sherpa/Romeo, impact factor)
Publisher Lippincott Williams & Wilkins
Extent 107-111
Origin http://dx.doi.org/10.1097/PDM.0b013e318278962e
Access rights Closed access
Type Article
Web of Science ID WOS:000319063900007
URI http://repositorio.unifesp.br/handle/11600/36414

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