Department of Urology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, China.
Department of Pathology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, China.
BMC Cancer. 2024 Sep 27;24(1):1180. doi: 10.1186/s12885-024-12913-3.
To establish the pathological diagnosis of UTUC before treatment is profitable. At present, the conventional pathological diagnostic methods have certain problems. Besides, the urine-based DNA methylation test have been already utilized to detect bladder cancer.
To evaluate the sensitivity and specificity of DNA methylation plus 17 genes mutation test and compare the combined test with cytology.
We included 45 patients from April 2019 to May 2022, all of whom underwent radical nephroureterectomy (RNU), nephrectomy, diagnostic ureteroscopy or tissue biopsy. Before surgery, the urine samples were collected for DNA methylation plus 17 genes mutation test and cytology. The test performance was calculated, and comparative ROC curves were drawn.
The median age of the patients was 67 years. The Kappa value of the DNA methylation plus 17 genes mutation test and tissue pathology was 0.59 (p<0.001). The sensitivity/specificity/PPV/NPV of DNA methylation plus 17 genes mutation test was 86/80/94/62% compared with 29/100/100/29% for cytology. The AUC of DNA methylation plus 17 genes mutation test was 0.829 (p<0.001).The mutated gene proportion of UTUC patients was 51.43% for TERT and 25.71% for TP53.
The test performance of DNA methylation plus 17 genes mutation test was satisfactory, which may replace cytology in the future. Further multicenter studies with larger samples are needed to confirm the clinical value of this promising method.
NOVELTY & IMPACT STATEMENTS: We evaluated the diagnostic efficacy of a urine-based liquid biopsy for the detection of UTUC and compared the combined test with cytology. We found satisfactory results and concluded that the test could partly replace cytology. Further studies are needed.
在治疗前建立 UTUC 的病理诊断是有益的。目前，常规的病理诊断方法存在一定的问题。此外，尿液 DNA 甲基化检测已被用于检测膀胱癌。
评估 DNA 甲基化加 17 个基因突变检测的敏感性和特异性，并将联合检测与细胞学进行比较。
我们纳入了 2019 年 4 月至 2022 年 5 月期间的 45 名患者，所有患者均接受了根治性肾输尿管切除术（RNU）、肾切除术、诊断性输尿管镜检查或组织活检。手术前，收集尿液样本进行 DNA 甲基化加 17 个基因突变检测和细胞学检查。计算检测性能，并绘制比较 ROC 曲线。
患者的中位年龄为 67 岁。DNA 甲基化加 17 个基因突变检测与组织病理学的 Kappa 值为 0.59（p<0.001）。与细胞学的 29/100/100/29%相比，DNA 甲基化加 17 个基因突变检测的敏感性/特异性/PPV/NPV 分别为 86/80/94/62%。DNA 甲基化加 17 个基因突变检测的 AUC 为 0.829（p<0.001）。UTUC 患者的突变基因比例为 TERT 为 51.43%，TP53 为 25.71%。
DNA 甲基化加 17 个基因突变检测的性能令人满意，未来可能取代细胞学检查。需要进一步进行多中心、大样本研究，以确认这种有前途的方法的临床价值。
我们评估了一种基于尿液的液体活检检测 UTUC 的诊断效能，并将联合检测与细胞学进行了比较。我们得到了令人满意的结果，并得出结论，该检测可以部分替代细胞学检查。需要进一步的研究。
