食管鳞状细胞癌淋巴结转移与体细胞突变GC%水平的相关性研究

  目的  探索与食管鳞状细胞癌淋巴结转移相关的分子标记。  方法  根据是否发生淋巴结转移将符合纳入标准的患者分成两组，采用单因素分析和多因素Logistic回归分析筛选影响食管癌淋巴结转移的因素，采用约登指数法探讨诊断阈值以及敏感度和特异性，通过ROC曲线下面积（areas under the ROC curve，AUC）评价影响因素的价值。  结果  单因素分析和多因素Logistic回归分析结果显示氨基酸密码子第一位突变点的野生型碱基GC%水平是影响食管癌淋巴结转移的因素OR（95%CI）:0.931（0.874~ 0.991），P < 0.05]。该因素的ROC曲线下面积为0.639（P < 0.05，95%CI:0.522~0.756），约登指数为0.277，敏感度和特异性分别为56.6%和71.1%。  结论  氨基酸密码子第一位突变点的野生型碱基GC%水平与食管鳞状细胞癌淋巴结转移显著相关，该分子标记为淋巴结转移的保护因素并具有潜在的临床应用价值。 

Identification of genomic aberrations associated with lymph node metastasis in esophageal squamous cell carcinoma

  Objective  To investigate molecular markers associated with lymph node metastasis in esophageal squamous cell carcinoma.  Methods  Patients who meet the inclusion criteria were assigned into two groups, with and without lymph node metastasis. The statistically significant risk factors were evaluated using univariate analysis and multivariate Logistic regression analysis. The diagnostic threshold, sensitivity, and specificity were analyzed by Youden's index. The area under the ROC curve (AUC) was used to evaluate the power of test.  Result  Univariate analysis and multivariate Logistic regression analysis showed that GC% of wild type base in the first somatic mutational position of the codons was a risk factor for lymph node metastasis OR (95% CI): 0.931 (0.874-0.991), P < 0.05]. AUC was 0.639 (P < 0.05, 95% CI: 0.522-0.756). The Youden's index was 0.277, and the sensitivity and specificity were 56.6% and 71.1%, respectively.  Conclusions  GC% of wild type base in the first somatic mutational position of the codons is significantly associated with lymph node metastasis in esophageal squamous cell carcinoma. The marker was found to be a protective factor for lymph node metastasis and has potential significance in clinical applications.