Abstract
Superficial esophageal squamous cell carcinoma (ESCC) is generally considered a subtype of less invasive ESCC. Yet a subset of these superficial ESCC would have metastasis after esophagostomy or endoscopic resection and lead to poor prognosis. The objective of this study is to determine biomarkers that can identify such subset of superficial ESCC that would have metastasis after surgery using genome wide copy number alteration (CNA) analyses. The CNAs of 38 cases of superficial ESCCs originated from radical surgery, including 19 without metastasis and 19 with metastasis within 5 years’ post-surgery, were analyzed using Affymetrix OncoScan™ FFPE Assay. A 39-gene signature was identified which characterized the subset of superficial ESCC with high risk of metastasis after surgery. In addition, recurrent CNAs of superficial ESCC were also investigated in the study. Amplification of 11q13.3 (FGF4) and deletion of 9p21.3 (CDKN2A) were found to be recurrent in all 38 superficial ESCCs analyzed. Notably amplifications of 3p26.33 (SOX2OT), 8q24.21 (MYC), 14q21.1 (FOXA1) and deletion of 3p12.1 (GBE1) were only found to be recurrent in metastaic superficial ESCCs. In conclusion, using CNAs analyses, we identify a 39-gene signature which characterizes the high risk metastatic superficial ESCCs and discover several recurrent CNAs that might be the driver alterations in metastasis among superficial ESCCs.
Highlights
Esophageal squamous cell carcinoma (ESCC) is one of the most deadly tumors worldwide, with 5 year survival of only 10%
The microarray data has been deposited in the Gene Expression Omnibus (GEO) with the accession number GSE78926
The main purpose of this study is to identify copy number alteration (CNA) that could differentiate superficial esophageal squamous cell carcinoma (ESCC) patients with high risk of metastasis
Summary
Esophageal squamous cell carcinoma (ESCC) is one of the most deadly tumors worldwide, with 5 year survival of only 10%. ESCC related death rates are high in China, in part due to the lack of early screening tools and limited treatment options [1]. Superficial ESCC has significant better prognosis than the advanced ESCC, and can be treated effectively by endoscopic resection, including both mucosal resection and submucosal dissection [2, 3]. Endoscopic resection remains the most widely used treatment option for superficial ESCCs because it is safe and esophaguspreserving. 26-53% of superficial ESCCs have lymph node metastasis, and require additional esophagectomy or radiochemotherapy after endoscopic resection [4, 5]. Identifying biomarkers that can assess the metastatic risk in superficial ESCC is of particular importance
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