PMID- 33758541 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20220421 IS - 1179-1322 (Print) IS - 1179-1322 (Electronic) IS - 1179-1322 (Linking) VI - 13 DP - 2021 TI - Molecular Heterogeneity of Xp11.2 Translocation Renal Cell Carcinoma: The Correlation Between Split Signal Pattern in FISH and Prognosis. PG - 2419-2431 LID - 10.2147/CMAR.S297457 [doi] AB - PURPOSE: Xp11.2 translocation renal cell carcinoma (Xp11.2 tRCC) is a distinct subtype of renal cell carcinoma (RCC) characterized by chromosomal translocations involving TFE3 gene. TFE3 break-apart fluorescence in situ hybridization (FISH) assay is an effective tool to diagnose Xp11.2 tRCC. The aim of this study is to evaluate the correlation between split signal pattern in FISH and the clinicopathological characteristics of Xp11.2 tRCC. PATIENTS AND METHODS: We reviewed 2037 RCC patients who underwent partial nephrectomy or radical nephrectomy from January 2007 to March 2020 in our institution. Forty-nine cases were diagnosed as Xp11.2 tRCC and their split signal patterns were evaluated. X-tile software was used to determine the optimal cut-off value of the percentage of split signal in FISH. Kaplan-Meier analysis and Cox regression analysis were performed to assess the relationship between signal pattern of FISH and the prognosis. RESULTS: Among the 49 patients, 13 patients and 36 patients were classified into high and low split signal group, respectively. Nine cases showed extra amplification signal pattern and 40 cases showed typical translocation signal pattern. Multivariate analysis demonstrated that high percentage of split signal and amplification signal pattern were the independent predictors for progression-free survival (PFS) whereas only pT stage was associated independently with overall survival (OS). CONCLUSION: Xp11.2 tRCC cases with high percentage of split signals or amplification signal pattern may have a worse outcome, and the two indicators need to be highlighted in clinical practice. CI - (c) 2021 Zhu et al. FAU - Zhu, Yiqi AU - Zhu Y AUID- ORCID: 0000-0002-3260-2108 AD - Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, People's Republic of 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, People's Republic of China. FAU - Dong, Xiang AU - Dong X AD - Department of Urology, Drum Tower Clinical Medical School of Nanjing Medical University, Nanjing, Jiangsu, People's Republic of China. FAU - Ji, Changwei AU - Ji C AD - Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, People's Republic of China. FAU - Guo, Hongqian AU - Guo H AD - Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, People's Republic of China. 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, Nanjing, Jiangsu, People's Republic of China. AD - Jiangsu Key Laboratory of Molecular Medicine, Nanjing University, Nanjing, Jiangsu, People's Republic of China. FAU - Zhao, Xiaozhi AU - Zhao X AD - Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, People's Republic of China. FAU - Gan, Weidong AU - Gan W AD - Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, People's Republic of China. LA - eng PT - Journal Article DEP - 20210315 PL - New Zealand TA - Cancer Manag Res JT - Cancer management and research JID - 101512700 PMC - PMC7979328 OTO - NOTNLM OT - FISH OT - TFE3 OT - Xp11.2 translocation renal cell carcinoma OT - amplification OT - prognosis COIS- The authors declare that they have no conflict of interest in this work. EDAT- 2021/03/25 06:00 MHDA- 2021/03/25 06:01 PMCR- 2021/03/15 CRDT- 2021/03/24 06:44 PHST- 2020/12/15 00:00 [received] PHST- 2021/02/16 00:00 [accepted] PHST- 2021/03/24 06:44 [entrez] PHST- 2021/03/25 06:00 [pubmed] PHST- 2021/03/25 06:01 [medline] PHST- 2021/03/15 00:00 [pmc-release] AID - 297457 [pii] AID - 10.2147/CMAR.S297457 [doi] PST - epublish SO - Cancer Manag Res. 2021 Mar 15;13:2419-2431. doi: 10.2147/CMAR.S297457. eCollection 2021.