Utility of Fluorescence In Situ Hybridization as a Non-invasive Technique in the Diagnosis of Upper Urinary Tract Urothelial Carcinoma

Marín-Aguilera, Mercedes; Mengual, Lourdes; Ribal, María J.; Musquera, Mireía; Ars, Elisabet; Villavicencio, H.; Algaba, Ferrán; Alcaraz, Antonio

doi:10.1016/j.eururo.2006.08.045

Cited by 74 publications

(73 citation statements)

References 22 publications

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“…It is of note that none of the patients with proven UUT-TCC in our cohort had false-negative FISH results. Although Akkad et al [15] recently reported similar result in their study, the FISH false-negative in our series was remarkably low compared with that (23.3%) reported by Marin-Aguilera et al [14]. There are several possible explanations for this finding.…”

Section: Discussioncontrasting

confidence: 55%

“…To date, there are only limited data to reveal the utility of FISH as a non-invasive test in the detection of UUT-TCC. These data suggested that FISH analysis performed on voided urine is feasible and that FISH could provide a reliable and less-invasive ancillary test for the detection of UUT-TCC [14][15][16][17]. However, no study has specifically evaluated the role of FISH assay in the detection of UUT-TCC in patients with asymptomatic hematuria and negative urine cytology to date.…”

Section: Discussionmentioning

confidence: 99%

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Fluorescence in situ hybridization assay detects upper urinary tract transitional cell carcinoma in patients with asymptomatic hematuria and negative urine cytology

Huang¹,

Li²,

Pang³

et al. 2012

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We evaluated the performance of a multiprobe FISH (fluorescence in situ hybridization) assay for noninvasive detection of upper urinary tract transitional cell carcinoma (UUT-TCC) in patients with asymptomatic hematuria and negative urine cytology. Voided urine samples from 285 patients with asymptomatic hematuria and negative urine cytology were prospectively analyzed by FISH technique. FISH assays were performed to detect chromosomal changes frequently associated with TCC, including aneuploidy of chromosomes 3, 7 and 17, and loss of the 9p21 locus. Eleven (3.9%) had a positive FISH result. Of the 11 patients, nine (81.8%) were found to have a TCC of the upper urinary tract, while no patients with negative FISH findings were found to have UUT-TCC. In this selected cohort, the sensitivity and specificity of FISH for the detection of UUT-TCC was 100% and 99.3%, respectively. Our preliminary data suggest that the clinical utility of FISH assay of chromosomes 3, 7, 9, and 17 as a noninvasive ancillary test for the diagnosis of UUT-TCC in a selected patient population with asymptomatic hematuria and negative urine cytology and by significant high sensitivity and specificity may be a reliable diagnostic approach for early detection of UUT-TCC patients. Further larger prospective and multicenter trials are needed to confirm our results.

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Section: Discussioncontrasting

confidence: 55%

Section: Discussionmentioning

confidence: 99%

Fluorescence in situ hybridization assay detects upper urinary tract transitional cell carcinoma in patients with asymptomatic hematuria and negative urine cytology

Huang¹,

Li²,

Pang³

et al. 2012

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“…The majority of patients with UTUC present with flank pain or hematuria at the early stages of the disease (4). Suspected UTUCs are usually evaluated with intravenous pyelography, retrograde pyelography (RGP), ultrasonography (UG), computed tomography (CT), upper tract urinary cytology and cystourethroscopy with biopsy (2,4).…”

Section: Introductionmentioning

confidence: 99%

“…Suspected UTUCs are usually evaluated with intravenous pyelography, retrograde pyelography (RGP), ultrasonography (UG), computed tomography (CT), upper tract urinary cytology and cystourethroscopy with biopsy (2,4). Imaging studies usually reveal a filling defect or an obstructive mass, which is often associated with hydronephrosis, hydroureter or renal stones (2).…”

Section: Introductionmentioning

confidence: 99%

Prospective evaluation of FISH for detecting upper tract urothelial carcinoma in voided urine specimens

et al. 2016

Oncology Letters

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Abstract. The aim of the present study was to estimate the diagnostic value of fluorescence in situ hybridization (FISH) analysis of tumor cells in voided urine specimens for detecting upper tract urothelial carcinoma (UTUC). Cytology and FISH analyses were conducted on voided urine collected in the morning from 125 patients with suspected UTUC. During follow-up, ureteroscopy with biopsy and histopathology were used to confirm the presence of tumors. The average follow-up time was 23.8 months (range, 6-36 months). A total of 8 patients who could not be contacted until the last follow-up were excluded from the study. Of the remaining 117 patients, 19 were histologically demonstrated to have UTUC, of whom, 3 patients had stage pTis disease, 6 had stage pTa disease, 5 had stage pT1 disease and 5 had stage pT2 disease (7 G1, 8 G2 and 4 G3). The overall sensitivity of FISH to detect UTUCs in voided urine specimens was 84.21% (16/19), whereas that of cytology was 42.11% (8/19) (P<0.05). The overall specificity of FISH to detect UTUCs in voided urine specimens was 89.80% (88/98), compared with 94.90% (93/98) of cytology (P>0.05). The positive predictive value (PPV) and negative predictive value of FISH were 80.00% (16/20) and 97.78% (88/90), respectively, whereas those of cytology were 100.00% (8/8) (P>0.05) and 90.29% (93/103) (P>0.05), respectively. The present data indicated that FISH was a method capable of detecting UTUCs in voided urine specimens with good sensitivity and specificity, although it exhibited a high rate of false positivity and low PPV.

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“…From the literature, FISH possesses a substantially higher sensitivity for UTUC (25,(35)(36)(37), whereas cytology is only positive in 20% patients without concurrent bladder UC, including invasive or high-grade UTUC (38,39). As UTUC shares identical karyotypic profiles with BUC (40), it is hypothesized that FISH serves an effective role for detecting UTUC.…”

Section: Discussionmentioning

confidence: 99%

Prospective evaluation of fluorescence in situ hybridization for diagnosing urothelial carcinoma

Lin

Liu

et al. 2017

Oncology Letters

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Abstract. Urothelial carcinoma (UC) is the most common type of cancer of the bladder and upper urinary tract, and is characterized by a high risk of recurrence and progression. Urine fluorescence in situ hybridization (FISH) is a technique that detects genetic aberrations in exfoliated cells in the urine, with specific probes for chromosomes 3, 7 and 17 and the p16 gene. To evaluate the diagnostic value of FISH in UC, 119 patients from November 2010 to June 2012 with suspected UC were recruited into a prospective, cross-sectional study and were followed up for 12-30 months. These patients received voided urine cytology and FISH tests, and underwent cystoscopy and/or ureteroscopy as a reference standard. The final diagnoses confirmed 73 patients with UC, located in the bladder, upper urinary tracts or the two. The sensitivity of FISH for detecting UC was superior to cytology, irrespective of tumor grade and stage: Overall, 80.8 vs. 32.9% (P<0.001); low grade, 75.8 vs. 12.1% (P<0.001); high grade, 85 vs. 50% (P<0.005); non-muscle-invasive, 81.1 vs. 28.3% (P<0.001) and muscle-invasive, 80 vs. 45% (P<0.05), respectively. The specificities of the two tests were similar; overall, the specificity was 89.1% for cytology vs. 100% for FISH, and no significant difference was observed between the methods. Notably, FISH exhibited 100% sensitivity for cytologically non-diagnostic UC, but 33.3% specificity. In conclusion, FISH is a reliable and non-invasive diagnostic tool for bladder and upper urinary tract UC, particularly in patients with low-grade or early stage

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Utility of Fluorescence In Situ Hybridization as a Non-invasive Technique in the Diagnosis of Upper Urinary Tract Urothelial Carcinoma

Cited by 74 publications

References 22 publications

Fluorescence in situ hybridization assay detects upper urinary tract transitional cell carcinoma in patients with asymptomatic hematuria and negative urine cytology

Fluorescence in situ hybridization assay detects upper urinary tract transitional cell carcinoma in patients with asymptomatic hematuria and negative urine cytology

Prospective evaluation of FISH for detecting upper tract urothelial carcinoma in voided urine specimens

Prospective evaluation of fluorescence in situ hybridization for diagnosing urothelial carcinoma

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