Department of Thoracic Surgery, The Fourth Affiliated Hospital of China Medical University, Shenyang, P.R. China.
Genet Test Mol Biomarkers. 2022 Jan;26(1):8-16. doi: 10.1089/gtmb.2021.0089.
Esophageal cancer (EC) is the second most common malignant tumor of the digestive system. There is currently no effective noninvasive method for early detection of EC. We performed a prospective cohort study involving 188 EC patients, 125 patients with benign esophageal diseases, and 270 normal subjects to examine the performance of methylated SEPT9 (mSEPT9) and synuclein gamma (SNCG) individually and in combination. The sensitivity of mSEPT9 and SNCG for EC was 43.1% (AUC = 0.69) at 95.6% specificity and 41.8% (AUC = 0.79) at 92.6% specificity, respectively. The combined detection increased the sensitivity to 71.8% at 90.3% specificity. The combined detection sensitivity for stage I-IV EC was 66.7%, 58.3%, 75.0%, and 88.2%, respectively. No significant difference in combined sensitivity was found among patients with EC of the upper, middle, and lower esophagus, and no significant difference in sensitivity was found between adenocarcinoma and squamous carcinoma. The sensitivity of highly differentiated EC was found to be higher than that of moderately and poorly differentiated EC with SNCG and combined detection. The sensitivity of SNCG in female patients was significantly higher than that in male patients, leading to the same trend in combined detection. Patients aged 40-49 years showed higher combined sensitivity. The sensitivity of SNCG was much higher than that of existing protein markers for digestive cancers. Furthermore, mSEPT9 was capable of predicting the long-term survival of EC patients with a hazard ratio of 2.65. The combined sensitivity of mSEPT7 and SNGG provided significant improvement over any single biomarker for the early detection of EC. mSEPT7 may be useful as a prognostic marker for long-term survival.
食管癌（EC）是消化系统第二大常见恶性肿瘤。目前尚无有效的非侵入性方法用于 EC 的早期检测。我们进行了一项前瞻性队列研究，纳入了 188 例 EC 患者、125 例良性食管疾病患者和 270 例正常对照者，以单独和联合检测甲基化 SEPT9（mSEPT9）和突触核蛋白γ（SNCG）在 EC 中的表现。mSEPT9 和 SNCG 对 EC 的敏感性分别为 43.1%（AUC=0.69），特异性为 95.6%，41.8%（AUC=0.79），特异性为 92.6%。联合检测将敏感性提高到 90.3%特异性时为 71.8%。联合检测对 I-IV 期 EC 的敏感性分别为 66.7%、58.3%、75.0%和 88.2%。在上、中、下段食管 EC 患者中，联合检测的敏感性无显著差异，腺癌和鳞癌之间敏感性也无显著差异。高分化 EC 的 SNCG 敏感性高于中、低分化 EC，SNCG 和联合检测的敏感性在女性患者中均显著高于男性。40-49 岁年龄组的联合敏感性较高。SNCG 的敏感性明显高于现有消化道癌的蛋白标志物。此外，mSEPT9 可预测 EC 患者的长期生存，风险比为 2.65。mSEPT7 和 SNGG 的联合敏感性比任何单一生物标志物都显著提高了 EC 的早期检测。mSEPT7 可能作为长期生存的预后标志物有用。
