血浆Septin9基因甲基化检测在胃肠道病变中的临床应用价值评价

目的探讨血浆Septin9基因甲基化在胃肠道病变进展过程中的临床应用价值。方法纳入2017年5月至2020年11月在福建医科大学附属第一医院行血浆Septin9基因甲基化检测(PCR荧光法)的受检者(包括结直肠癌和胃癌患者、消化系统良性病变患者及无疾病证据受检者)2128例,收集相关临床资料,并进行ROC曲线分析。结果术前结直肠癌和胃癌患者、消化系统良性病变患者、无疾病证据受检者血浆Septin9基因甲基化的阳性率分别为57.67%、43.71%、17.72%和4.88%。与无疾病证据受检者组相比较,术前结直肠癌和胃癌患者Septin9基因甲基化检测的敏感性分别为57.71%和43.71%,特异性分别为95.12%和95.12%。临床分期为Ⅲ~Ⅳ期的结直肠癌(68.92%)和胃癌(48.80%)患者的血浆Septin9基因甲基化的阳性率高于Ⅰ~Ⅱ期结直肠癌(50.51%)和胃癌(18.82%)患者,术前行该检测的结直肠癌(57.76%)和胃癌(43.71%)患者的阳性率亦高于术后行该检测的结直肠癌(31.45%)和胃癌(33.76%)患者,且有63.33%结直肠癌与69.23%胃癌患者在术后该指标由阳性转变为阴性。ROC曲线分析结果表明,单独血浆Septin9基因甲基化在筛查结直肠癌患者与结直肠良性病变患者或无疾病证据受检者组中ROC曲线下面积(AUC^ROC)分别为0.681和0.764,在筛查胃癌患者与胃良性病变患者或无疾病证据受检者组中的AUC^ROC分别为0.649和0.694。在筛查结直肠癌与结直肠良性病变患者组中,Septin9联合癌胚抗原检测的AUC^ROC可提高至0.789。结论血浆Septin9基因甲基化检测在结直肠癌和胃癌中具有一定的诊断价值,但仍需结合其他的诊断方法。

Evaluation for clinical application of methylated Septin 9 test in plasma of gastrointestinal diseases

Objective To investigate the values in clinical application of plasma methylated Septin9 test in gastrointestinal diseases.Methods The data were collected retrospectively from the First Affiliated Hospital of Fujian Medical University from May 2017 to November 2020.A total of 2128 recipients,including the patients with colorectal cancer(CRC),gastric cancer(GC)and benign digestive diseases,as well as the recipients who were no evidences of diseases(NED),received plasma methylated Septin9 test(PCR-fluorescent probe method).The relevant clinical data were collected and ROC curve analysis was performed.Results The positive rates of plasma methylated Septin9 test in the pre-operative patients with CRC,GC and benign digestive diseases as well as the NED recipients were 57.67%,43.71%,17.72%and 4.88%,respectively.Compared with NED recipients,the sensitivity of plasma methylated Septin9 test in pre-operative patients with CRC and GC were 57.71%and 43.71%,while the specificity were 95.12%and 95.12%.Furthermore,the positive rates methylated Septin9 test were increased in the CRC patients(68.92%)and GC patients(48.80%)with TNM stageⅢandⅣ,which were more than those in the CRC patients(50.51%)and GC patients(18.82%)with TNM stageⅠandⅡ.Similarly,the positive rates in the CRC patients(57.76%)and GC patients(43.71%)before surgery were significantly higher than those in the CRC patients(31.45%)and GC patients(33.76%)after surgery,respectively.After surgery,the results of plasma methylated Septin9 tests changed from positive to negative in 63.33%CRC patients and 69.23%GC patients.ROC curve analysis demonstrated that the area under the curves(AUC^ROC)of plasma methylated Septin9 test between CRC patients and the benign colorectal disease patients or NED recipients were 0.681 or 0.764,while the AUC^ROC between GC patients and with gastric disease patients or NED recipients were 0.649 and 0.694 respectively.The combined detections of methylated Septin9 and carcinoembryonic antigen increased AUC^ROC to 0.789 in the patients with CRC and benign colorectal diseases group.Conclusion Plasma methylated Septin9 test have diagnostic values for CRC and GC.However,additional diagnostic methods should still be required.