外周血Septin9基因甲基化在乳腺癌诊断和化疗疗效评价中的价值

Value of peripheral blood septin9 gene methylation in the diagnosis of breast cancer and evaluation of chemotherapy efficacy

目的探讨外周血肿瘤DNA中SEPT9基因甲基化在乳腺肿瘤诊断及乳腺癌疗效评估中的应用价值。方法选取西北妇女儿童医院2017年6月~2020年6月经病理学证实的乳腺肿瘤患者132例,其中乳腺癌82例,乳腺良性肿瘤50例。比较良恶性乳腺肿瘤患者的Septin9基因甲基化检测结果。对乳腺癌患者外周血Septin9基因甲基化、CEA、CA153、CK19的诊断价值进行比较。观察行新辅助化疗患者Septin9基因甲基化状态变化。结果乳腺癌患者Septin9基因甲基化阳性率35.36%,高于良性乳腺肿瘤患者(4%),组间差异有显著统计学意义(P<0.01)。CK19与Septin9诊断敏感性差异无统计学意义(P>0.05)。Septin9诊断敏感性高于CEA、CA153,差异有显著统计学意义(P<0.01)。Septin9基因甲基化检测的灵敏度为35.36%,特异度为96.0%。Septin9基因甲基化阳性患者新辅助化疗后由阳性转为阴性的患者中PR占比95.23%,持续阳性患者中SD+PD占比100%。结论部分乳腺癌患者出现外周血Septin9基因甲基化,对于Septin9基因甲基化阳性患者,其变化可以作为化疗疗效评估的生物标记物。在目前阶段,Septin9基因甲基化尚不能作为乳腺癌早期筛查、诊断的辅助指标。

Objective To investigate the value of methylation of SEPT9 gene in peripheral blood tumor DNA in the diagnosis and treatment of breast cancer.Methods From June 2017 to June 2020,132 patients with breast cancer confirmed by pathology were selected as the research objects,including 82 cases of breast cancer and 50 cases of benign breast tumor.Objective to compare the detection results of septin9 gene methylation in patients with benign and malignant breast tumors.Objective to compare the diagnostic value of septin9 gene methylation,CEA,CA153 and CK19 in peripheral blood of patients with breast cancer.Objective To observe the changes of septin9 gene methylation in patients undergoing neoadjuvant chemotherapy.Results The positive rate of septin9 gene methylation in breast cancer patients was 35.36%,which was higher than that in benign breast cancer patients(4%).The difference between benign and malignant groups was statistically significant(P<0.01).There was no significant difference in diagnostic sensitivity between CK19 and septin9(P>0.05).The diagnostic sensitivity of septin9 was higher than that of CEA and CA153(P<0.01).The sensitivity and specificity were 35.36%and 96.0%.PR accounted for 95.23%of the patients who changed from positive to negative after neoadjuvant chemotherapy,and SD+PD accounted for 100%of the patients whose methylation of septin9 gene was persistently positive.Conclusion Some breast cancer patients have methylation of septin9 gene in peripheral blood.For patients with positive methylation of septin9 gene,the change can be used as a biomarker to evaluate the efficacy of chemotherapy.At present,the methylation of septin9 gene can not be used as an auxiliary index for early screening and diagnosis of breast cancer.