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Molecular Heterogeneity of Xp11.2 Translocation Renal Cell Carcinoma: The Correlation Between Split Signal Pattern in FISH and Prognosis

Authors Zhu Y, Pu X, Dong X, Ji C, Guo H, Li D, Zhao X, Gan W

Received 15 December 2020

Accepted for publication 16 February 2021

Published 15 March 2021 Volume 2021:13 Pages 2419—2431

DOI https://doi.org/10.2147/CMAR.S297457

Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Dr Yong Teng


Yiqi Zhu,1,* Xiaohong Pu,2,* Xiang Dong,3 Changwei Ji,1 Hongqian Guo,1 Dongmei Li,4,5 Xiaozhi Zhao,1 Weidong Gan1

1Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, People’s Republic of China; 2Department of Pathology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, People’s Republic of China; 3Department of Urology, Drum Tower Clinical Medical School of Nanjing Medical University, Nanjing, Jiangsu, People’s Republic of China; 4Immunology and Reproduction Biology Laboratory & State Key Laboratory of Analytical Chemistry for Life Science, Medical School, Nanjing University, Nanjing, Jiangsu, People’s Republic of China; 5Jiangsu Key Laboratory of Molecular Medicine, Nanjing University, Nanjing, Jiangsu, People’s Republic of China

*These authors contributed equally to this work

Correspondence: Weidong Gan; Xiaozhi Zhao
Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, 321 Zhongshan Road, Nanjing, Jiangsu, 210008, People’s Republic of China
Tel +86 13305186699
Fax +86 2583307115
Email [email protected]; [email protected]

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.

Keywords: Xp11.2 translocation renal cell carcinoma, TFE3, FISH, amplification, prognosis

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