FactsNewsProductsBladder cancer and FISH diagnostic technique

May 23, 2024

Bladder cancer is the ninth most frequent neoplasm in the world and the most frequent of the genito-urinary tract. The most recognized risk factors for carcinoma are cigarette smoking, advanced age, and occupational exposure to paints and solvents.
Screening can be done with noninvasive investigations such as hematuria detection and urinary cytology.
In most cases, the diagnostic process starts with the chance finding of traces of blood in urine and the subsequent finding of atypical cells in urine collected at three different times (cytological examination). The next step is an exploratory cystoscopy, which, in the most favorable scenario, allows the tumor to be visually identified and fragments (biopsies) taken for histological diagnosis.
Once diagnosed, most often the tumor can be excised endoscopically through an operative cystoscopy under general or peridural anesthesia.

However, it should be mentioned that cytological examination is falsely negative in 50% of cases and exploratory cystoscopy is falsely negative in 30% of cases. Coupling cytologic examination to exploratory cystoscopy therefore fails to ensure 100 percent diagnostic sensitivity, with the risk of exhausting (for the patient) and costly (for the SSR) diagnostic sequelae (repeated cystoscopies, CT, NMR, ultrasound).
Urothelial cell carcinoma is characterized by the increase of chromosomes 3, 7 and 17 and the loss of the gene at position 9p21 (which codes for the oncosuppressor p16). Using the FISH (Fluorescence In Site Hybridization) technique, it is possible to count chromosomes 3,7 and 17 and copies of the 9p21 gene in urine-emitted cells.
The FISH technique, when coupled with automatic analysis of results, achieves 99% sensitivity.
Ikoniscope’s FISH technology makes it possible to quantify the percentage of pathological cells, and this is of great clinical importance since it has now been scientifically demonstrated that this percentage is directly proportional to the invasiveness of the tumor. Therefore, in cases of sure positivity on FISH, an exploratory cystoscopy can be avoided and instead a CT scan can be used to localize the tumor before operative cystoscopy; conversely, in cases of definitely negative FISH, an exploratory follow-up cystoscopy can be procrastinated. All this translates into greater clinical effectiveness (better diagnostic sensitivity, less invasiveness, less time, less cost).
To ensure diagnostic certainty, FISH must be performed on very large numbers of cells by highly trained personnel, both in anatomic pathology and cytogenetics, and with a substantial clinical caseload.

Quantitative FISH of urothelial cells can definitely guarantee positives and negatives, it is therefore indicated, at the stage of diagnosis, in the deepening of cytological examinations with uncertain outcome (atypia, nuclear hyperchromasia etc …) while, at the stage of monitoring recurrences, it should precede control cystoscopy.

To read the full study, please refer to the Scientific Article

Congresso Triennale di Anatomia Patologica SIAPeC
Cell examined with Ikoniscope, oncoFISH bladder application
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