Zhu Yiqi, Pu Xiaohong, Dong Xiang, Ji Changwei, Guo Hongqian, Li Dongmei, Zhao Xiaozhi, Gan Weidong
Department of Urology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, People's Republic of China.
Department of Pathology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu, People's Republic of China.
Cancer Manag Res. 2021 Mar 15;13:2419-2431. doi: 10.2147/CMAR.S297457. eCollection 2021.
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.
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.
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).
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.
Xp11.2易位性肾细胞癌（Xp11.2 tRCC）是肾细胞癌（RCC）的一种独特亚型，其特征为涉及TFE3基因的染色体易位。TFE3断裂分离荧光原位杂交（FISH）检测是诊断Xp11.2 tRCC的有效工具。本研究旨在评估FISH中分裂信号模式与Xp11.2 tRCC临床病理特征之间的相关性。
我们回顾了2007年1月至2020年3月在本机构接受部分肾切除术或根治性肾切除术的2037例RCC患者。49例被诊断为Xp11.2 tRCC，并对其分裂信号模式进行评估。使用X-tile软件确定FISH中分裂信号百分比的最佳截断值。进行Kaplan-Meier分析和Cox回归分析以评估FISH信号模式与预后之间的关系。
49例患者中，13例和36例分别被分为高分裂信号组和低分裂信号组。9例显示额外扩增信号模式，40例显示典型易位信号模式。多因素分析表明，高分裂信号百分比和扩增信号模式是无进展生存期（PFS）的独立预测因素，而只有pT分期与总生存期（OS）独立相关。
分裂信号百分比高或具有扩增信号模式的Xp11.2 tRCC病例可能预后较差，这两个指标在临床实践中需要重点关注。
