Department of Pathology, The University of Alabama at Birmingham, Birmingham, AL, 35233, USA.
Department of Pathology, The Johns Hopkins Hospital, Baltimore, MD, 21231, USA.
Virchows Arch. 2020 Mar;476(3):423-429. doi: 10.1007/s00428-019-02654-1. Epub 2019 Sep 3.
Urine cytology is an essential element of the diagnostic work up of hematuria. A significant proportion of cases continue to be placed in the "atypical" or "suspicious" categories of the Paris system for urine cytology, posing difficulty in patient management. We report on the performance of our recently described urine-based assay "UroSEEK" in cases with equivocal diagnosis in patients who are investigated for bladder cancer. Urine samples were collected from two cohorts. The first consisted of patients who presented with hematuria or lower urinary tract symptoms (early detection cohort) and the second of patients that are in follow-up for prior bladder cancer (surveillance cohort). Urine samples were analyzed for mutations in 11 genes and aneuploidy. In the early detection setting, we found high sensitivity and specificity (96% and 88%, respectively) and a strong negative predictive value of 99%. The assay performance was less robust in the surveillance cohort (sensitivity of 74%, specificity of 72%, and negative predictive value of 53%). UroSEEK demonstrated a notable lead time to cancer diagnosis. Seven cases in the early detection cohort and 71 surveillance cases were detected at least 6 months prior to clinical diagnosis. Our results suggest a potential role for UroSEEK assay in guiding management of patients with atypical urine cytology if confirmed in future prospective trials.
尿细胞学检查是血尿诊断工作的重要组成部分。相当一部分病例仍被归入巴黎尿细胞学系统的“非典型”或“可疑”类别，这给患者管理带来了困难。我们报告了最近描述的基于尿液的检测方法“UroSEEK”在膀胱癌患者疑似诊断病例中的表现。尿样取自两个队列。第一个队列由出现血尿或下尿路症状的患者组成（早期检测队列），第二个队列由膀胱癌患者随访组成（监测队列）。对尿液样本进行了 11 个基因的突变和非整倍体分析。在早期检测中，我们发现了高灵敏度和特异性（分别为 96%和 88%），阴性预测值高达 99%。该检测在监测队列中的性能不太稳定（灵敏度为 74%，特异性为 72%，阴性预测值为 53%）。UroSEEK 表现出显著的癌症诊断提前时间。在早期检测队列中，有 7 例和在监测队列中，有 71 例病例至少在临床诊断前 6 个月就被发现。我们的结果表明，如果在未来的前瞻性试验中得到证实，UroSEEK 检测方法在指导非典型尿细胞学患者的管理方面具有潜在作用。
