Gomella Leonard G, Mann Mark J, Cleary Ryan C, Hubosky Scott G, Bagley Demetrius H, Thumar Adeep B, McCue Peter A, Lallas Costas D, Trabulsi Edouard J
Department of Urology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Can J Urol. 2017 Feb;24(1):8620-8626.
We evaluated the UroVysion (Abbott Molecular, IL, USA) fluorescence in situ hybridization (FISH) assay for the diagnosis of urothelial cancer in patients diagnosed with or suspected to have bladder, upper tract urothelial carcinoma (UTUC), and combined upper and lower tract urothelial carcinoma (BC).
A single institution retrospective analysis comparing sensitivity, specificity, positive predictive value, and negative predictive values for FISH and urinary cytology. FISH within 6 months of endoscopic evaluation were obtained from outpatient voided urine samples. Our institutional pathology department confirmed pathologic disease from specimens obtained during endoscopic evaluations for lower tract disease. For upper tract disease, disease was confirmed by retrograde ureteroscopy, biopsies of visual lesions, and site-specific upper tract cytology.
A total of 415 patients submitted FISH specimens. Overall, FISH was more sensitive than cytology 54.9% in comparison with cytology 42.2% (p = 0.01), specificity favored cytology 92.9% compared to 73.5% with FISH (p < 0.01). For BC only patients, the same significant finding of increased sensitivity and decreased specificity was identified, but for UTUC alone and combined UTUC and BC, there was no significant difference. Cytology had improved positive predictive value (PPV) over FISH, 76.9% in comparison to 64.6% (p = 0.02). Negative predictive value (NPV) also favored cytology 74.2% versus 64.9% (p = 0.02). When analyzing individual cohorts, cytology had improved PPV for BC alone patients. UTUC showed no difference for PPV and NPV. For both UTUC and BC, NPV was slightly favored for FISH over cytology 93.2% versus 91.2% (p = 0.03).
Voided urine FISH testing does offer a higher detection of urothelial carcinoma for BC compared to voided cytology; however, specificity was worse. FISH does not appear to improve detection of urothelial carcinoma in patients with either UTUC only or both BC and UTUC.
我们评估了UroVysion（美国伊利诺伊州雅培分子公司）荧光原位杂交（FISH）检测法在诊断患有或疑似患有膀胱癌、上尿路尿路上皮癌（UTUC）以及上下尿路联合尿路上皮癌（BC）患者中的应用。
进行单机构回顾性分析，比较FISH和尿液细胞学检查的敏感性、特异性、阳性预测值和阴性预测值。在内镜评估的6个月内，从门诊患者的晨尿样本中获取FISH检测结果。我们机构的病理科通过对下尿路疾病内镜评估期间获取的标本进行病理诊断来确诊疾病。对于上尿路疾病，通过逆行输尿管镜检查、可视病变活检以及特定部位的上尿路细胞学检查来确诊疾病。
共有415例患者提交了FISH标本。总体而言，FISH比细胞学检查更敏感，FISH的敏感性为54.9%，而细胞学检查为42.2%（p = 0.01）；特异性方面，细胞学检查更具优势，为92.9%，而FISH为73.5%（p < 0.01）。仅针对BC患者，也发现了敏感性增加和特异性降低的相同显著结果，但对于单独的UTUC患者以及UTUC和BC合并患者，两者之间没有显著差异。细胞学检查的阳性预测值（PPV）高于FISH，分别为76.9%和64.6%（p = 0.02）。阴性预测值（NPV）同样是细胞学检查更具优势，分别为74.2%和64.9%（p = 0.02）。在分析各个队列时，细胞学检查对仅患有BC的患者的PPV有所提高。UTUC在PPV和NPV方面没有差异。对于UTUC和BC患者，FISH的NPV略高于细胞学检查，分别为93.2%和91.2%（p = 0.03）。
与晨尿细胞学检查相比，晨尿FISH检测对BC患者尿路上皮癌的检测率更高；然而，其特异性较差。FISH似乎并不能提高仅患有UTUC或同时患有BC和UTUC患者尿路上皮癌的检测率。
