Plasma DNA methylation detection for early screening, diagnosis, and monitoring of esophageal adenocarcinoma and squamous cell carcinoma

Abstract

Background: The early diagnosis rate of esophageal cancer (EC), one of the most prevalent digestive tract cancers worldwide, remains low.

Aim: To investigate the utility of plasma SHOX2, SEPTIN9, EPO, and RNF180 methylation in the clinical diagnosis and monitoring of EC.

Methods: Plasma samples were collected from 210 patients at Hubei Cancer Hospital, and TaqMan polymerase chain reaction was employed to detect plasma SHOX2, SEPTIN9, RNF180, and EPO methylation. The area under the curve was used to estimate their diagnostic value for EC. Cox and logistic regression analyses were used to estimate the independent screening risk factors for patients with EC.

Results: The sensitivity and specificity of combined assessment of plasma SHOX2, SEPTIN9, RNF180, and EPO methylation for adenocarcinoma, squamous cell carcinoma (SCC), and EC detection were 66.67% and 86.27%, 77.40% and 85.29%, and 76.19% and 86.27%, respectively; the area under the curve values for diagnosing adenocarcinoma, SCC, and EC were 0.737 [95% confidence interval (CI): 0.584-0.89], 0.824 (95%CI: 0.775-0.891), and 0.864 (95%CI: 0.809-0.92), respectively.

Conclusion: According to our findings, plasma SHOX2, SEPTIN9, RNF180, and EPO methylation exhibits appreciated sensitivity for diagnosing EC. The precise measurement of plasma SHOX2, SEPTIN9, RNF180, and EPO methylation can improve EC diagnosis and therapy efficacy monitoring.

Keywords: Adenocarcinoma; Diagnosis; Esophageal squamous cell carcinoma; Methylation; Tumor markers.