PMID- 33004995 OWN - NLM STAT- MEDLINE DCOM- 20210101 LR - 20211001 IS - 2045-2322 (Electronic) IS - 2045-2322 (Linking) VI - 10 IP - 1 DP - 2020 Oct 1 TI - The suitability of NONO-TFE3 dual-fusion FISH assay as a diagnostic tool for NONO-TFE3 renal cell carcinoma. PG - 16361 LID - 10.1038/s41598-020-73309-4 [doi] LID - 16361 AB - NONO-TFE3 RCC is a subtype of Xp11.2 translocation renal cell carcinoma (RCC). So far, only a small amount of NONO-TFE3 RCC have been reported owing to lack of effective diagnosis methods. Utilizing the novel dual-fusion fluorescence in situ hybridization (FISH) probe reported here, 5 cases of NONO-TFE3 RCC were identified and were ultimately confirmed by RT-PCR. Histopathology, all 5 cases were consisted by sheets of epithelial cells and papillary architecture. The cytoplasm was abundantly clear, and nucleoli was not prominent. Besides, the nuclear palisading, subnuclear vacuoles and psammoma bodies were identified. The most distinctive features were strong positive TFE3 staining but equivocal split signals of the TFE3 probe, which might lead to the misdiagnosis of Xp11.2 translocation RCC. The median age and median tumor size of the five patients were 41.2 years and 3.6 cm, respectively. A median following follow-up of 27 months showed moderate disease progression and prognosis in NONO-TFE3 RCC patients. In conclusion, the present study demonstrates the effectiveness and reliability of the NONO-TFE3 dual-fusion FISH probe for diagnosing NONO-TFE3 RCC. Suspected cases of Xp11.2 translocation RCC showing biphasic pattern, strong positive TFE3 staining, and equivocal split signals in the TFE3 FISH assay indicated a possibility of NONO-TFE3 RCC. FAU - Liu, Ning AU - Liu N AD - Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, 321 Zhongshan Road, Nanjing, 210008, Jiangsu, China. FAU - Guo, Wei AU - Guo W AD - Department of Urology, Drum Tower Clinical Medical School of Nanjing Medical University, Nanjing, Jiangsu, China. AD - Department of Urology, Jiangsu Taizhou People's Hospital, Taizhou, Jiangsu, China. FAU - Shi, Qiancheng AU - Shi Q AD - Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, 321 Zhongshan Road, Nanjing, 210008, Jiangsu, China. FAU - Zhuang, Wenyuan AU - Zhuang W AD - Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, 321 Zhongshan Road, Nanjing, 210008, Jiangsu, China. FAU - Pu, Xiaohong AU - Pu X AD - Department of Pathology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, China. FAU - Chen, Shaoyu AU - Chen S AD - Guangzhou LBP Medicine Science & Technology Co., LTD, Guangzhou, Guangdong, China. FAU - Qu, Feng AU - Qu F AD - Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, 321 Zhongshan Road, Nanjing, 210008, Jiangsu, China. FAU - Xu, Linfeng AU - Xu L AD - Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, 321 Zhongshan Road, Nanjing, 210008, Jiangsu, China. FAU - Zhao, Xiaozhi AU - Zhao X AD - Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, 321 Zhongshan Road, Nanjing, 210008, Jiangsu, China. FAU - Li, Xiaogong AU - Li X AD - Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, 321 Zhongshan Road, Nanjing, 210008, Jiangsu, China. FAU - Zhang, Gutian AU - Zhang G AD - Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, 321 Zhongshan Road, Nanjing, 210008, Jiangsu, China. FAU - Guo, Hongqian AU - Guo H AD - Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, 321 Zhongshan Road, Nanjing, 210008, Jiangsu, China. FAU - Gan, Weidong AU - Gan W AD - Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, 321 Zhongshan Road, Nanjing, 210008, Jiangsu, China. gwd@nju.edu.cn. AD - Department of Urology, Drum Tower Clinical Medical School of Nanjing Medical University, Nanjing, Jiangsu, China. gwd@nju.edu.cn. FAU - Li, Dongmei AU - Li D AD - Immunology and Reproduction Biology Laboratory & State Key Laboratory of Analytical Chemistry for Life Science, Medical School, Nanjing University, 22 Hankou Road, Nanjing, 210093, Jiangsu, China. lidm@nju.edu.cn. AD - Jiangsu Key Laboratory of Molecular Medicine, Nanjing University, Nanjing, Jiangsu, China. lidm@nju.edu.cn. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20201001 PL - England TA - Sci Rep JT - Scientific reports JID - 101563288 RN - 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors) RN - 0 (DNA-Binding Proteins) RN - 0 (NONO protein, human) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (RNA-Binding Proteins) RN - 0 (TFE3 protein, human) SB - IM MH - Adult MH - Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/*genetics MH - Carcinoma, Renal Cell/*diagnosis/genetics/pathology MH - Child MH - DNA-Binding Proteins/*genetics MH - Female MH - Humans MH - *In Situ Hybridization, Fluorescence MH - Kidney/*pathology MH - Kidney Neoplasms/*diagnosis/genetics/pathology MH - Male MH - Middle Aged MH - Oncogene Proteins, Fusion/*genetics MH - RNA-Binding Proteins/*genetics MH - Reproducibility of Results MH - Young Adult PMC - PMC7530984 COIS- The authors declare no competing interests. EDAT- 2020/10/03 06:00 MHDA- 2021/01/02 06:00 PMCR- 2020/10/01 CRDT- 2020/10/02 05:41 PHST- 2020/02/06 00:00 [received] PHST- 2020/09/09 00:00 [accepted] PHST- 2020/10/02 05:41 [entrez] PHST- 2020/10/03 06:00 [pubmed] PHST- 2021/01/02 06:00 [medline] PHST- 2020/10/01 00:00 [pmc-release] AID - 10.1038/s41598-020-73309-4 [pii] AID - 73309 [pii] AID - 10.1038/s41598-020-73309-4 [doi] PST - epublish SO - Sci Rep. 2020 Oct 1;10(1):16361. doi: 10.1038/s41598-020-73309-4.