SOX2 amplification and chromosome 3 gain significantly impact prognosis in esophageal squamous cell carcinoma.
SOX2 amplification and chromosome 3 gain significantly impact prognosis in esophageal squamous cell carcinoma.
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SOX2 扩增和 3 号染色体增益显着影响食管鳞状细胞癌的预后
DOI：
10.21037/atm-20-1290
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发表时间：
2021-03
影响因子：
--
通讯作者：
Hou Y
中科院分区：
文献类型：
--
作者：
Wang X;Ge X;Wang H;Huang J;Song Q;Xu C;Jiang Z;Su J;Wang H;Tan L;Jiang D;Hou Y
研究背景我们的目的是探讨性别决定区Y盒2（SOX 2）扩增和表达在手术切除的食管鳞状细胞癌（ESCC）中的发生率和预后作用。方法应用荧光原位杂交和免疫组化技术检测450例食管鳞癌组织中SOX 2基因扩增和蛋白表达。统计分析基因状态与各种临床病理特征和患者生存期的关系。结果4.4%和12.9%的食管鳞癌患者存在SOX 2扩增和3号染色体获得。SOX 2扩增与晚期临床分期相关，3号染色体获得与早期临床分期相关（P=0.025）。SOX 2低表达和高表达分别占28.9%和24.7%。SOX 2表达与基因拷贝数变异显著相关（P=0.007）。SOX 2扩增与显著较短的无病生存期（DFS）或总生存期（OS）相关。然而，3号染色体增加与DFS或OS显著延长相关（P<0.001）。使用考克斯比例风险模型的多变量分析表明，SOX 2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），沿着病理学肿瘤-淋巴结-转移（pTNM）分期，而3号染色体获得是一个独立的更好的预后因素（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）。结论：这是第一个在ESCC大队列中评估SOX 2扩增和3号染色体获得的研究。SOX 2扩增是一个独立的较差的预后因素，而3号染色体增益是一个独立的有利的预后因素。我们的研究结果表明，SOX 2扩增和3号染色体获得是与ESCC的肿瘤进展和危险分层相关的潜在生物标志物。
Background We aimed to investigate the prevalence and prognostic role of Sex determining region Y-box 2 (SOX2) amplification and expression in surgically resected esophageal squamous cell carcinoma (ESCC). Methods We evaluated 450 ESCC samples using fluorescence in-situ hybridization and immunohistochemistry for SOX2 gene amplification and protein expression, respectively. The relationships of gene status with various clinicopathological characteristics and patient survival were statistically analyzed. Results SOX2 amplifications and chromosome 3 gain were observed in 4.4% and 12.9% of patients with ESCC. SOX2 amplification was associated with later clinical stage, and chromosome 3 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). SOX2 amplification was associated with a significantly shorter disease-free survival (DFS) or overall survival (OS). However, chromosome 3 gain was associated with a significantly longer DFS or OS (P<0.001). Multivariate analysis using the Cox proportional hazard model indicated that SOX2 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 chromosome 3 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. Conclusions This is the first study wherein SOX2 amplification and chromosome 3 gain in a large cohort of ESCC were evaluated. SOX2 amplification is an independently poorer prognostic factor, whereas chromosome 3 gain is an independently favorable prognostic factor. Our results suggest that SOX2 amplification and chromosome 3 gain are potential biomarkers related to tumor progression and risk stratification in ESCC.
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影响因子：
4.6
作者：
Chung JH;Jung HR;Jung AR;Lee YC;Kong M;Lee JS;Eun YG
通讯作者：
Eun YG
影响因子：
64.8
作者：
通讯作者：
--
影响因子：
64.8
作者：
Cancer Genome Atlas Research Network;Analysis Working Group: Asan University;BC Cancer Agency;Brigham and Women’s Hospital;Broad Institute;Brown University;Case Western Reserve University;Dana-Farber Cancer Institute;Duke University;Greater Poland Cancer Centre;Harvard Medical School;Institute for Systems Biology;KU Leuven;Mayo Clinic;Memorial Sloan Kettering Cancer Center;National Cancer Institute;Nationwide Children’s Hospital;Stanford University;University of Alabama;University of Michigan;University of North Carolina;University of Pittsburgh;University of Rochester;University of Southern California;University of Texas MD Anderson Cancer Center;University of Washington;Van Andel Research Institute;Vanderbilt University;Washington University;Genome Sequencing Center: Broad Institute;Washington University in St. Louis;Genome Characterization Centers: BC Cancer Agency;Broad Institute;Harvard Medical School;Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins University;University of North Carolina;University of Southern California Epigenome Center;University of Texas MD Anderson Cancer Center;Van Andel Research Institute;Genome Data Analysis Centers: Broad Institute;Brown University:;Harvard Medical School;Institute for Systems Biology;Memorial Sloan Kettering Cancer Center;University of California Santa Cruz;University of Texas MD Anderson Cancer Center;Biospecimen Core Resource: International Genomics Consortium;Research Institute at Nationwide Children’s Hospital;Tissue Source Sites: Analytic Biologic Services;Asan Medical Center;Asterand Bioscience;Barretos Cancer Hospital;BioreclamationIVT;Botkin Municipal Clinic;Chonnam National University Medical School;Christiana Care Health System;Cureline;Duke University;Emory University;Erasmus University;Indiana University School of Medicine;Institute of Oncology of Moldova;International Genomics Consortium;Invidumed;Israelitisches Krankenhaus Hamburg;Keimyung University School of Medicine;Memorial Sloan Kettering Cancer Center;National Cancer Center Goyang;Ontario Tumour Bank;Peter MacCallum Cancer Centre;Pusan National University Medical School;Ribeirão Preto Medical School;St. Joseph’s Hospital &Medical Center;St. Petersburg Academic University;Tayside Tissue Bank;University of Dundee;University of Kansas Medical Center;University of Michigan;University of North Carolina at Chapel Hill;University of Pittsburgh School of Medicine;University of Texas MD Anderson Cancer Center;Disease Working Group: Duke University;Memorial Sloan Kettering Cancer Center;National Cancer Institute;University of Texas MD Anderson Cancer Center;Yonsei University College of Medicine;Data Coordination Center: CSRA Inc.;Project Team: National Institutes of Health
通讯作者：
Project Team: National Institutes of Health
另一种高输出组织微阵列技术
影响因子：
2.6
作者：
Shi Y;He D;Hou Y;Hu Q;Xu C;Liu Y;Jiang D;Su J;Zeng H;Tan Y
通讯作者：
Tan Y
影响因子：
--
作者：
Kim HS;Lee SE;Bae YS;Kim DJ;Lee CG;Hur J;Chung H;Park JC;Shin SK;Lee SK;Lee YC;Kim HR;Shim YM;Jewell SS;Kim H;Choi YL;Cho BC
通讯作者：
Cho BC