Current non-invasive approaches for detection of urothelial cancers are suboptimal. We developed a test to detect urothelial neoplasms using DNA recovered from cells shed into urine. UroSEEK incorporates massive parallel sequencing assays for mutations in 11 genes and copy number changes on 39 chromosome arms. In 570 patients at risk for bladder cancer (BC), UroSEEK was positive in 83% of those who developed BC. Combined with cytology, UroSEEK detected 95% of patients who developed BC. Of 56 patients with upper tract urothelial cancer, 75% tested positive by UroSEEK, including 79% of those with non-invasive tumors. UroSEEK detected genetic abnormalities in 68% of urines obtained from BC patients under surveillance who demonstrated clinical evidence of recurrence. The advantages of UroSEEK over cytology were evident in low-grade BCs; UroSEEK detected 67% of cases whereas cytology detected none. These results establish the foundation for a new non-invasive approach for detection of urothelial cancer.

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通过驱动基因突变和非整倍体分析无创检测尿路上皮癌

目前用于检测尿路上皮癌的非侵入性方法并不理想。我们开发了一种测试，使用从流入尿液的细胞中回收的 DNA 检测尿路上皮肿瘤。UroSEEK 对 11 个基因的突变和 39 个染色体臂上的拷贝数变化进行了大规模并行测序分析。在 570 名有膀胱癌 (BC) 风险的患者中，83% 的膀胱癌患者中 UroSEEK 呈阳性。结合细胞学，UroSEEK 检测到 95% 的 BC 患者。在 56 名上尿路尿路上皮癌患者中，75% 的患者经 UroSEEK 检测呈阳性，其中 79% 的非侵袭性肿瘤患者。UroSEEK 在 68% 的受监测 BC 患者尿液中检测到遗传异常，这些患者表现出复发的临床证据。UroSEEK 相对于细胞学的优势在低级别 BC 中很明显；UroSEEK 检测到 67% 的病例，而细胞学未检测到任何病例。这些结果为检测尿路上皮癌的新非侵入性方法奠定了基础。