Wang Xin, Ge Xiaowen, Wang Haixing, Huang Jie, Song Qi, Xu Chen, Jiang Zhengzeng, Su Jieakesu, Wang Hao, Tan Lijie, Jiang Dongxian, Hou Yingyong
Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai, China.
Department of Thoracic Surgery, Zhongshan Hospital, Fudan University, Shanghai, China.
Ann Transl Med. 2021 Feb;9(4):321. doi: 10.21037/atm-20-1290.
We aimed to investigate the prevalence and prognostic role of () amplification and expression in surgically resected esophageal squamous cell carcinoma (ESCC).
We evaluated 450 ESCC samples using fluorescence in-situ hybridization and immunohistochemistry for gene amplification and protein expression, respectively. The relationships of gene status with various clinicopathological characteristics and patient survival were statistically analyzed.
amplifications and gain were observed in 4.4% and 12.9% of patients with ESCC. amplification was associated with later clinical stage, and gain was associated with earlier clinical stage (P=0.025). Low and high SOX2 expression were found in 28.9% and 24.7% of cases, respectively. SOX2 expression was significantly associated with gene copy number variation (P=0.007). amplification was associated with a significantly shorter disease-free survival (DFS) or overall survival (OS). However, gain was associated with a significantly longer DFS or OS (P<0.001). Multivariate analysis using the Cox proportional hazard model indicated that amplification was an independently poorer prognostic factor (DFS, P<0.001, HR 2.638, 95% CI, 1.581-4.403; OS, P<0.001, HR 2.608, 95% CI, 1.562-4.355), along with pathology tumor-node-metastasis (pTNM) stage, whereas gain was an independently better prognostic factor (DFS, P=0.003, HR 0.486, 95% CI, 0.300-0.789; OS, P=0.003, HR 0.474, 95% CI, 0.289-0.779) for ESCC.
This is the first study wherein amplification and gain in a large cohort of ESCC were evaluated. amplification is an independently poorer prognostic factor, whereas gain is an independently favorable prognostic factor. Our results suggest that amplification and gain are potential biomarkers related to tumor progression and risk stratification in ESCC.
我们旨在研究（）扩增和表达在手术切除的食管鳞状细胞癌（ESCC）中的发生率及预后作用。
我们分别使用荧光原位杂交和免疫组织化学对450份ESCC样本进行基因扩增和蛋白表达评估。对基因状态与各种临床病理特征及患者生存情况的关系进行统计学分析。
在4.4%的ESCC患者中观察到扩增，在12.9%的患者中观察到增益。扩增与较晚临床分期相关，增益与较早临床分期相关（P = 0.025）。分别在28.9%和24.7%的病例中发现低和高SOX2表达。SOX2表达与基因拷贝数变异显著相关（P = 0.007）。扩增与无病生存期（DFS）或总生存期（OS）显著缩短相关。然而，增益与显著更长的DFS或OS相关（P < 0.001）。使用Cox比例风险模型进行的多变量分析表明，扩增是一个独立的较差预后因素（DFS，P < 0.001，HR = 2.638，95% CI，1.581 - 4.403；OS，P < 0.001，HR = 2.608，95% CI，1.562 - 4.355），与病理肿瘤-淋巴结-转移（pTNM）分期一起，而增益是ESCC的一个独立更好的预后因素（DFS，P = 0.003，HR = 0.486，95% CI，0.300 - 0.789；OS，P = 0.003，HR = 0.474，95% CI，0.289 - 0.779）。
这是第一项对大量ESCC队列中的扩增和增益进行评估的研究。扩增是一个独立的较差预后因素，而增益是一个独立的有利预后因素。我们的结果表明，扩增和增益是与ESCC肿瘤进展和风险分层相关的潜在生物标志物。
