FISH Articles


  • Chromosome 12p abnormalities and IMP3 expression in prepubertal pure testicular teratomas.

    Although the histologic appearance of pure testicular teratomas (PTTs) is similar in children and adults, the prognosis is dramatically different. Prepubertal PTTs are rare, with a benign clinical course, whereas the adult cases typically have malignant outcomes.

    Published February 1, 2016
  • Comparison of different concepts for interpretation of chromosomal aberrations in urothelial cells detected by fluorescence in situ hybridization.

    Urine fluorescence in situ hybridization (FISH) has become a broadly used marker for noninvasive detection of bladder cancer (BC). However, it has been discussed whether the interpretation algorithm proposed by the manufacturer could be improved.

    Published December 5, 2016
  • Comprehensive analysis of 34 MiT family translocation renal cell carcinomas and review of the literature: investigating prognostic markers and therapy targets.

    Recently cabozantinib, a tyrosine kinase inhibitor with activity against VEGF, MET, AXL, and downregulating cathepsin K in vitro, has been proposed for the treatment of advanced clear and non-clear renal cell carcinomas.

    Published March 2, 2020
  • Detection Of Tetraploidization In Chromophobe Renal Cell Carcinoma: Insights And Pitfalls.

    Chromosomal losses resulting in a marked hypodiploidy are a specificity of chromophobe renal cell carcinoma (ChRCC), the third most frequent type of kidney cancer. Its detection is useful in challenging cases.

    Published July 15, 2020
  • Development and Initial Testing of a Modified UroVysion-Based Fluorescence In Situ Hybridization Score for Prediction of Progression in Bladder Cancer.

    Our aim was to predict progression of non-muscle-invasive bladder urothelial carcinomas (NMIUCs) into muscle-invasive disease by assessing cytogenetic abnormality of tumors with a new UroVysion scoring system.

    Published November 22, 2019
  • Diagnosis - Upper Urinary Tract Urothelial Tumors

    Upper urinary tract urothelial tumors involving the renal pelvis or ureter are relatively uncommon, accounting for 5% to 7% of all renal tumors and about 5% of all urothelial tumors.

    • The peak incidence of upper tract tumors is 10 per 100,000 per year, occurring in the age range of 75 to 79 years.
    • Synchronous bilateral urothelial upper urinary tract tumors are rare.
    • The National Cancer Data Base (NCDB) for the United States for the years 1993 to 2005 identified a total of 334,480 bladder cancers, 15,105 renal pelvis cancers, and 10,128 ureteral cancers. There was a significant increase in high-grade tumors in each of the sites during those years.
    • The percentage of early stage tumors increased for both the renal pelvis and the ureter.
    • Overall, there was no change in survival during those years.
    • Upper tract urothelial tumors are rarely diagnosed at autopsy but rather present clinically during the patient's lifetime.
    • It appears that the true incidence of upper tract tumors is increasing as the population ages.
    • Patients with upper tract cancer are generally older than patients with bladder tumors.
    • Upper tract tumors rarely present before the age of 40 years, and the mean age at presentation is 65 years.  
    • The most common presenting symptom of upper tract urothelial tumors is hematuria, either gross or microscopic.

    Signs and Symptoms Upper Tract Urothelial Tumors

    • The most common presenting symptom of upper tract urothelial tumors is hematuria, either gross or microscopic. This occurs in 56% to 98% of patients.
    • Flank pain is the second most common symptom, occurring in 30% of tumors.
    • This pain is typically dull and believed to be secondary to a gradual onset of obstruction and hydronephrotic distention. In some cases, pain can be acute and mimic renal colic, typically ascribed to the passage of clots that acutely obstruct the collecting system.
    • Flank pain in patients with upper tract tumors does not correlate with either locally advanced tumor stage or worse prognosis, as is the case with bladder cancer.
    • Nearly all upper tract tumors are diagnosed during the patient's life.

    Radiologic evaluation for diagnosis of upper tract lesions:

    • Computed tomographic (CT) urography is increasingly performed today.
    • CT is easier to perform and less labor intensive than intravenous pyelography.
    • Computed tomographic (CT) urographyhas a higher degree of accuracy in determining the presence of renal parenchymal lesions.
    • CT urography has been performed to obtain a three-dimensional image of the upper tracts.
    • This technique appears to be equal to intravenous pyelography in imaging the ureters and renal pelvis.
    • With CT urography, the sensitivity for detecting upper tract malignant disease has been reported to approach 100%, with a specificity of 60% and a negative predictive value of 100%.
    • CT urography does, however, expose the patient to higher doses of radiation.
    • Filling defects, which account for 50% to 75% of cases, typically require the intravenous administration of contrast material to be identified.
    • Evaluation of the contralateral kidney is important not only because of possible bilaterality of the disease but also because it allows a determination of the functionality of the contralateral kidney.
    • For staging purposes, CT or magnetic resonance imaging (MRI) is most useful in determining the extent of invasion, an associated mass lesion outside the collecting system, and the presence of lymph node or distant metastases.
    • The greatest downside of CT or MRI is in the detection of small lesions that may be lost in volume averaging. In one series, CT predicted TNM stage in 60% of patients; it understaged 16% and overstaged 24%.


    • Since upper urinary tract tumors are often associated with bladder cancers, cystoscopy is mandatory in the evaluation to exclude coexistent bladder lesions.

    Ureteroscopic Evaluation and Biopsy

    • Diagnostic accuracy can be improved from approximately 75% with excretory or retrograde urography alone to 85% to 90% when it is combined with ureteroscopy.
    • As with bladder tumors, 55% to 75% of ureteral tumors are low grade and low stage.
    • Also, like bladder cancers, approximately 85% of renal pelvic tumors are papillary and the remainder sessile. 
    • Invasion of the lamina propria or muscle (stage T1 or T2) occurs in 50% of papillary and in more than 80% of sessile tumors. 
    • Overall 50% to 60% of renal pelvic tumors are invasive into either the lamina propria or muscle. In ureteral tumors, invasion is also more common than in bladder tumors.
    • Ureteroscopy should probably be reserved for situations in which the diagnosis remains in question after conventional radiographic studies and for those patients in whom the treatment plan may be modified on the basis of the ureteroscopic findings, for example, endoscopic resection.

    Role of Cytology and Other Tumor Markers

    • Results suggest that FISH also may be useful in the diagnosis of upper tract urothelial tumors.


    • Anderstrom C, Johansson SL, Pettersson S, Wahlquist L: Carcinoma of the ureter: a clinicopathologic study of 49 cases. J Urol  1989; 142:280-283.
    • Blute ML, Segura JW, Patterson DE, et al: Impact of endourology on diagnosis and management of upper urinary tract urothelial cancer. J Urol  1989; 141:1298.
    • Caoili EM, Cohan RH, Korobkin M, et al: Urinary tract abnormalities: initial experience with multi-detector row CT urography. Radiology  2002; 222:353.
    • Cummings KB: Nephroureterectomy: rationale in the management of transitional cell carcinoma of the upper urinary tract. Urol Clin North Am  1980; 7:569-578.
    • Guinan P, Vogelzang NJ, Randazzo R, et al: Renal pelvic cancer: a review of 611 patients treated in Illinois 1975-1985. Urology  1992; 40:393-399.
    • Luo B, Li W, Deng CH, et al: Utility of fluorescence in situ hybridization in the diagnosis of upper urinary tract urothelial carcinoma. Cancer Genet Cytogenet  2009; 189:93-97.
    • McTavish JD, Jinzaki M, Zou KH, et al: Multi-detector row CT urography: comparison of strategies for depicting the normal urinary collecting system. Radiology  2002; 225:783.
    • McTavish JD, Jinzaki M, Zou KH, et al: Multi-detector row CT urography: comparison of strategies for depicting the normal urinary collecting system. Radiology  2002; 225:783.
    • Milestone B, Freidman AC, Seidmon EJ, et al: Staging of ureteral transitional cell carcinoma by CT and MRI. Urology  1990; 36:346.
    • Murphy DM, Zincke H, Furlow WL: Management of high grade transitional cell cancer of the upper urinary tract. J Urol  1981; 125:25-29.
    • Raabe NK, Fossa SD, Bjerkehagen B: Carcinoma of the renal pelvis. Scand J Urol Nephrol  1992; 26:357.
    • Ressequie LT, Nobrega FT, Farrow GM, et al: Epidemiology of renal and ureteral cancer in Rochester, Minnesota, 1950–1974, with special reference to clinical and pathologic features. Mayo Clin Proc  1978; 53:503.
    • Richie JP: Carcinoma of the renal pelvis and ureter.   In: Skinner DG, Lieskovsky G, ed. Diagnosis and management of genitourinary cancer,  Philadelphia: WB Saunders; 1988:323-336.
    • Scolieri MJ, Paik ML, Brown SL, Resnick MI: Limitations of computed tomography in the preoperative staging of upper tract urothelial carcinoma. Urology  2000; 56:930.
    • Streem SB, Pontes JE, Novick AC, et al: Ureteropyeloscopy in the evaluation of upper tract filling defects. J Urol  1986; 136:388.
    • Williams RD: Renal, perirenal, and ureteral neoplasms.   In: Gillenwater JY, Grayhack JT, Howards SS, Duckett JW, ed. Adult and pediatric urology,  2nd ed. St. Louis: Mosby–Year Book; 1991.


    Published April 26, 2012
  • Epidermal growth factor receptor as an adverse survival predictor in squamous cell carcinoma of the penis.

    Penile carcinoma (PC) is more frequent in underdeveloped countries, generally is diagnosed at an advanced stage when therapeutic options are restricted, and thus is associated with high morbidity/mortality rates.

    Published November 20, 2016
  • Fish-Derived Omega-3 Fatty Acids and Prostate Cancer: A Systematic Review.

    Background The use of natural health products in prostate cancer (PrCa) is high despite a lack of evidence with respect to safety and efficacy. Fish-derived omega-3 fatty acids possess anti-inflammatory effects and preclinical data suggest a protective effect on PrCa incidence and progression; however, human studies have yielded conflicting results.

    Published July 12, 2016
  • Frequency of PTEN alterations, TMPRSS2-ERG fusion and their association in prostate cancer.

    Phosphatase and tensin homolog (PTEN) gene aberration and trans membrane protease, serine 2 (TMPRSS2)-v-ets avian erythroblastosis virus E26 oncogene homolog (ERG) fusion are the most prevalent genomic events in prostate cancer.

    Published October 15, 2015
  • Genetic alterations in benign prostatic hyperplasia patients.

    Background: Benign prostate hyperplasia (BPH) is a classical age-related disease of the prostate, present in 20% of men at the age of 40 years with progression to 70% by the age of 60 years. BPH is associated with various lower urinary tract symptoms, which affect their day-to-day life.

    Published January 1, 2018
  • Metastatic risk stratification of clear cell renal cell carcinoma patients based on genomic aberrations.

    Prognostic markers for the definition of the individual metastatic risk in renal cell carcinoma are still missing. The aim of our study was to establish a total number of specific aberrations (TNSA) genetic score as a new prognostic test for metastatic risk evaluation.

    Published March 11, 2019
  • MiT Family Translocation Renal Cell Carcinoma: from the Early Descriptions to the Current Knowledge.

    The new category of MiT family translocation renal cell carcinoma has been included into the World Health Organization (WHO) classification in 2016. The MiT family translocation renal cell carcinoma comprises Xp11 translocation renal cell carcinoma harboring TFE3 gene fusions and t(6;11) renal cell carcinoma harboring TFEB gene fusion.

    Published August 14, 2019
  • The diagnostic accuracy of urine-based tests for bladder cancer varies greatly by patient.

    Spectrum effects refer to the phenomenon that test performance varies across subgroups of a population. When spectrum effects occur during diagnostic testing for cancer, difficult patient misdiagnoses can occur.

    Published June 23, 2016
  • The molecular underpinnings of prostate cancer: impacts on management and pathology practice.

    Prostate cancer (PCa) is a clinically heterogeneous disease and current treatment strategies are based largely on anatomical and pathological parameters. In the recent past, several DNA sequencing studies of primary and advanced PCa have revealed recurrent patterns of genomic aberrations that expose mechanisms of resistance to available therapies and potential new drug targets.

    Published October 28, 2016
  • TMPRSS2:ERG gene aberrations may provide insight into pT stage in prostate cancer.

    TMPRSS2:ERG gene aberration may be a novel marker that improves risk stratification of prostate cancer before definitive cancer therapy, but studies have been inconclusive.

    The study cohort consisted of 202 operable prostate cancer Slovenian patients who underwent laparoscopic radical prostatectomy.

    Published July 11, 2016