PMID- 28415646 OWN - NLM STAT- MEDLINE DCOM- 20180305 LR - 20181113 IS - 1949-2553 (Electronic) IS - 1949-2553 (Linking) VI - 8 IP - 19 DP - 2017 May 9 TI - Combination of immunohistochemistry, FISH and RT-PCR shows high incidence of Xp11 translocation RCC: comparison of three different diagnostic methods. PG - 30756-30765 LID - 10.18632/oncotarget.16481 [doi] AB - 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. FAU - Lee, Hyun Jung AU - Lee HJ AD - Department of Pathology, School of Medicine, Pusan National University, Yangsan, Korea. AD - Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yang San, Korea. FAU - Shin, Dong Hoon AU - Shin DH AD - Department of Pathology, School of Medicine, Pusan National University, Yangsan, Korea. AD - Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yang San, Korea. FAU - Noh, Gyu You AU - Noh GY AD - Department of Pathology, School of Medicine, Pusan National University, Yangsan, Korea. FAU - Kim, Young Keum AU - Kim YK AD - Department of Pathology, School of Medicine, Pusan National University, Yangsan, Korea. FAU - Kim, Ahrong AU - Kim A AD - Department of Pathology, School of Medicine, Pusan National University, Yangsan, Korea. FAU - Shin, Nari AU - Shin N AD - Department of Pathology, School of Medicine, Pusan National University, Yangsan, Korea. FAU - Lee, Jung Hee AU - Lee JH AD - Department of Pathology, School of Medicine, Pusan National University, Yangsan, Korea. FAU - Choi, Kyung Un AU - Choi KU AD - Department of Pathology, School of Medicine, Pusan National University, Yangsan, Korea. FAU - Kim, Jee Yeon AU - Kim JY AD - Department of Pathology, School of Medicine, Pusan National University, Yangsan, Korea. FAU - Lee, Chang Hun AU - Lee CH AD - Department of Pathology, School of Medicine, Pusan National University, Yangsan, Korea. FAU - Sol, Mee Young AU - Sol MY AD - Department of Pathology, School of Medicine, Pusan National University, Yangsan, Korea. FAU - Rha, Seo Hee AU - Rha SH AD - Department of Pathology, Donga University Hospital, Busan, Korea. FAU - Park, Sung Woo AU - Park SW AD - Department of Urology, School of Medicine, Pusan National University, Yangsan, Korea. LA - eng PT - Journal Article PL - United States TA - Oncotarget JT - Oncotarget JID - 101532965 RN - 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors) RN - 0 (Biomarkers, Tumor) RN - 0 (TFE3 protein, human) SB - IM MH - Adult MH - Aged MH - Aged, 80 and over MH - Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics/metabolism MH - Biomarkers, Tumor MH - Carcinoma, Renal Cell/*diagnosis/*genetics/metabolism MH - *Chromosomes, Human, X MH - Female MH - Gene Expression MH - Humans MH - Immunohistochemistry MH - In Situ Hybridization, Fluorescence MH - Incidence MH - Kidney Neoplasms/*diagnosis/*genetics/metabolism MH - Male MH - Middle Aged MH - Reverse Transcriptase Polymerase Chain Reaction MH - *Translocation, Genetic PMC - PMC5458165 OTO - NOTNLM OT - FFPE OT - FISH OT - Pathology Section OT - RT-PCR OT - TFE3 OT - renal cell carcinoma COIS- CONFLICTS OF INTEREST The authors declare no potential conflicts of interest in the article. EDAT- 2017/04/19 06:00 MHDA- 2018/03/06 06:00 PMCR- 2017/05/09 CRDT- 2017/04/19 06:00 PHST- 2017/01/12 00:00 [received] PHST- 2017/03/15 00:00 [accepted] PHST- 2017/04/19 06:00 [pubmed] PHST- 2018/03/06 06:00 [medline] PHST- 2017/04/19 06:00 [entrez] PHST- 2017/05/09 00:00 [pmc-release] AID - 16481 [pii] AID - 10.18632/oncotarget.16481 [doi] PST - ppublish SO - Oncotarget. 2017 May 9;8(19):30756-30765. doi: 10.18632/oncotarget.16481.