Research Papers: Pathology:
Combination of immunohistochemistry, FISH and RT-PCR shows high incidence of Xp11 translocation RCC: comparison of three different diagnostic methods
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Hyun Jung Lee1,3, Dong Hoon Shin1,3, Gyu You Noh1, Young Keum Kim1, Ahrong Kim1, Nari Shin1, Jung Hee Lee1, Kyung Un Choi1, Jee Yeon Kim1, Chang Hun Lee1, Mee Young Sol1, Seo Hee Rha4 and Sung Woo Park2
1 Department of Pathology, School of Medicine, Pusan National University, Yangsan, Korea
2 Department of Urology, School of Medicine, Pusan National University, Yangsan, Korea
3 Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yang San, Korea
4 Department of Pathology, Donga University Hospital, Busan, Korea
Dong Hoon Shin, email:
Keywords: TFE3, RT-PCR, FISH, renal cell carcinoma, FFPE, Pathology Section
Received: January 12, 2017 Accepted: March 15, 2017 Published: March 22, 2017
We evaluated the frequency of translocation renal cell carcinoma (RCC) by reverse transcription polymerase chain reaction (RT-PCR) and how well the TFE3 immunoreactivity is concordant with TFE3 gene translocation status proved by fluorescence in situ hybridization (FISH) assay and RT-PCR. TFE3 and Cathepsin K expression was analyzed by immunohistochemistry in 185 RCC cases, and 48 cases either of more than weak expression of TFE3 or of positivity for Cathepsin K were done for FISH analysis and RT-PCR. All the RT-PCR positive cases were confirmed by cloning and sequencing. Of the 14 cases with strong nuclear TFE3 expression, 12 showed a break-apart signal by FISH. ASPL- and PRCC-TFE3 translocations were detected in 13 and one case, respectively, by RT-PCR. Of 21 cases with weak TFE3 expression, five were translocation-positive by FISH. ASPL-, PRCC-, and PSF-TFE3 translocations were detected by RT-PCR (n=3, 3, and 1, respectively). All 13 TFE3-negative/cathepsin K-positive cases were negative by FISH and two each harbored ASPL- and PRCC-TFE3 translocations that were detected by RT-PCR. A high rate of TFE3 immunoreactivity (8.6%) was confirmed by RT-PCR (13.5%) and FISH (9.7%). Higher translocation rate of RT-PCR means RT-PCR detected translocation in TFE3 weak expression group and only cathepsin K positive group more specifically than FISH. Thus, RT-PCR would complement FISH analysis for detecting translocation RCC with fusion partners.
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