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.
Am J Clin Pathol. 2024 Feb 1;161(2):115-121. doi: 10.1093/ajcp/aqad116.
To evaluate the diagnostic efficacy of a DNA methylation test, compare that test with cytology alone, fluorescence in situ hybridization (FISH) alone, and cytology plus FISH, and explore reasons that may influence the accuracy of liquid biopsy.
We included 37 patients and 12 negative control individuals between April 2019 and May 2022. All patients had undergone radical nephroureterectomy, nephrectomy, diagnostic ureteroscopy, or tissue biopsy. Urine samples were collected for DNA methylation testing, cytology, and FISH. Test performance was calculated, and receiver operating characteristic curves were drawn for comparison.
Median patient age was 66 years, and κ = 0.576 (P < .001) for the DNA methylation test and tissue pathology. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of the DNA methylation test were 76%, 100%, 100%, and 74%, respectively, compared with 31%, 100%, 100%, and 50%, respectively, for cytology. The sensitivity, specificity, PPV, and NPV of cytology plus FISH were 66%, 100%, 100%, and 67%, respectively. The area under the curve (AUC) of the DNA methylation test was 0.879 (P < .001), and the AUC of cytology plus FISH was 0.828 (P < .001).
The test performance of DNA methylation was satisfactory. The DNA methylation test for the detection of upper tract urothelial carcinoma demonstrated better sensitivity than did cytology alone or cytology with FISH, but the accuracy of the combined tests was still acceptable. Further prospective studies with larger samples are needed to confirm the clinical value of this promising method.
评估一种 DNA 甲基化检测的诊断效能，比较该检测与细胞学检查、荧光原位杂交（FISH）以及细胞学联合 FISH 的诊断效能，并探讨可能影响液体活检准确性的原因。
我们纳入了 2019 年 4 月至 2022 年 5 月间的 37 名患者和 12 名阴性对照者。所有患者均接受了根治性肾输尿管切除术、肾切除术、诊断性输尿管镜检查或组织活检。采集尿液样本进行 DNA 甲基化检测、细胞学检查和 FISH。计算检测性能，并绘制受试者工作特征曲线进行比较。
患者中位年龄为 66 岁，DNA 甲基化检测与组织病理学的κ 值为 0.576（P<0.001）。与细胞学检查相比，DNA 甲基化检测的敏感性、特异性、阳性预测值（PPV）和阴性预测值（NPV）分别为 76%、100%、100%和 74%，而细胞学检查分别为 31%、100%、100%和 50%。细胞学联合 FISH 的敏感性、特异性、PPV 和 NPV 分别为 66%、100%、100%和 67%。DNA 甲基化检测的曲线下面积（AUC）为 0.879（P<0.001），而细胞学联合 FISH 的 AUC 为 0.828（P<0.001）。
DNA 甲基化检测的性能令人满意。与单独细胞学检查或细胞学联合 FISH 相比，检测上尿路上皮癌的 DNA 甲基化检测具有更好的敏感性，但联合检测的准确性仍可接受。需要进一步开展前瞻性、大样本研究来确认这种有前景的方法的临床价值。
