Molecular Cytology Applications on Urine

  • Spasenija SavicEmail author


Numerous urine tumor markers have been identified with the goal to improve noninvasive diagnosis of urothelial carcinoma (UC) and decrease the number of costly and uncomfortable cystoscopies. Only few markers have been developed into commercially available diagnostic tests, and the FDA-approved UroVysion fluorescence in situ hybridization test (U-FISH; Abbott Molecular) is most commonly used in cytology laboratories. Though extensively studied in different clinical settings including screening, hematuria evaluation, and surveillance of patients with a history of UC, U-FISH is most useful in patients with equivocal cytology in the setting of a negative or equivocal cystoscopy. The value of ancillary U-FISH in this specific clinico-morphological context has recently been acknowledged by the AUA/SUO (American Urological Association/Society of Urologic Oncology) guidelines. In benign cytology and cytology positive for high-grade UC (HGUC), ancillary U-FISH does not add any clinical benefit but only unnecessary costs. With standardized pre-analytic and analytic procedures and a standardized test evaluation, including the previously proposed optimized definition of a FISH-positive result, U-FISH can help clarify equivocal cytology and may provide clinically relevant results though the value of a U-FISH-guided clinical management needs to be investigated in appropriately designed prospective clinical trials.

With the available high-throughput molecular techniques, it is likely that more sensitive and specific diagnostic, prognostic, and predictive molecular tumor markers will be developed for UC. Crucial for implementation into clinical management will be the validation in prospective clinical trials with protocols including molecular-guided clinical decision-making.


UroVysion FISH Cytology Atypical urothelial cells Molecular urine marker Urothelial carcinoma 


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© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Institute of PathologyUniversity Hospital BaselBaselSwitzerland

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