SEPT9基因甲基化水平在膀胱尿路上皮病变鉴别诊断中的应用  

The application of SEPT9 gene methylation levels in the differential diagnosis of bladder urinary tract epithelial lesions

作　　者：王更芳[1] 周晓莉[1] 郭媛 饶秋 WANG Gengfang;ZHOU Xiaoli;GUO Yuan;RAO Qiu(Department of Pathology,the Affiliated Changzhou Second People’s Hospital of Nanjing Medical University,Changzhou 213003,China;Jinling Clinical Medical College of Nanjing Medical University,Nanjing 210002,China)

机构地区：[1]南京医科大学附属常州市第二人民医院病理科,常州213003 [2]南京医科大学金陵临床医学院,南京210002

出　　处：《临床与实验病理学杂志》2024年第4期373-379,共7页Chinese Journal of Clinical and Experimental Pathology

摘　　要：目的探讨SEPT9基因甲基化水平在尿路上皮病变良、恶性鉴别诊断中的作用,并尝试通过联合使用SEPT9甲基化检测降低膀胱镜活检组织的假阴性率。方法对160例经病理诊断的尿路上皮病变进行SEPT9甲基化检测,分析其辅助诊断良、恶性病变的敏感性和特异性;比较癌和癌旁组织间SEPT9基因甲基化水平;在12例首次膀胱镜活检为炎症或良性病变而后续活检、电切为癌的病理组织中分别检测SEPT9基因甲基化水平。结果SEPT9基因甲基化水平鉴别诊断尿路上皮良、恶性病变的敏感性、特异性分别为98%(88/90)和94%(66/70)。47%(7/15)的癌旁组织中SEPT9基因甲基化检测结果为阳性,显示癌旁组织表观遗传修饰异常;12例首次膀胱镜活检为炎症或良性病变的组织中SEPT9基因甲基化检测阳性率为67%(8/12),再次活检、电切病理证实为癌的组织SEPT9甲基化检测阳性率为100%(12/12)。结论SEPT9基因甲基化检测可以辅助尿路上皮病变良、恶性鉴别诊断,并可能有助于减少膀胱镜活检组织的假阴性率。Purpose This study aimed to explore the diagnostic role of SEPT9 gene methylation levels in distinguishing between benign and malignant urinary epithelial lesions and to investigate the potential of reducing the false negative rate of bladder biopsy tissue by combining SEPT9 methylation testing.Methods SEPT9 methylation was used to detect 160 cased of pathologically diagnosed urinary tract lesions,and the sensitivity and specificity of its auxiliary diagnosis of benign and malignant lesions were analyzed.The methylation levels of the SEPT9 gene were compared between cancerous and para-cancerous tissues.SEPT9 gene methylation levels were also assessed in pathological tissues initially misdiagnosed as inflammation or benign lesions on bladder biopsy,but later confirmed as cancer through re-biopsy or resection.Results The sensitivity and specificity of SEPT9 gene methylation levels in distinguishing between benign and malignant urinary tract epithelial lesions were 98%(88/90)and 94%(66/70),respectively.Among non-cancerous adjacent tissues,47%(7/15)showed positive SEPT9 gene methylation,indicating aberrant epigenetic modifications in these tissues.Among 12 cases initially diagnosed as inflammation or benign lesions on cystoscopic biopsy,the positive rate of SEPT9 gene methylation was 67%(8/12).After repeat biopsy or pathological resection,SEPT9 methylation detection in tissues confirmed as cancer was 100%positive(12/12).Conclusion SEPT9 gene methylation detection can aid in the differentiation of benign and malignant urothelial lesions,which potentially reducing the false negative rate of bladder biopsy tissue.

关 键 词：尿路上皮病变 活检组织 鉴别诊断 SEPT9甲基化 

分 类 号：R737.1[医药卫生—肿瘤]