Bladder cancer is the most common malignant tumor of the urinary system. It is more common in men and the incidence is about 4 times that of women. The average age of onset is 65 years. Seventy-five percent of the new cases are superficial tumors, of which 50-80% will have recurrences one to many times after treatment; 15-25% will progress to invasive cancer. Therefore, patients with superficial bladder cancer need to pay close attention to the recurrence and deterioration of the tumor. Cystoscopy or urine exfoliative cytology is recommended for patients with hematuria over 40 years of age. However, cystoscopy can cause unnecessary pain to the patient, and because of the stimulation of the bladder wall tumor, it will cause the malignant expansion and metastasis of the tumor, which is not suitable for large-scale screening, and the cytological examination is insufficiently sensitive. Fluorescence in situ hybridization detection of urine sediment cells showed strong advantages in early diagnosis and postoperative recurrence of bladder cancer.
Bladder cancer probes consist of two groups of probes. The orange dye is used to label the P16 gene region, the green dye is used to label the centromere region of chromosome 17 (CEP17); the orange dye is used to label the centromere region of chromosome 3 (CEP3), and the green dye is used to label the centromere region of chromosome 7 (CEP7). The P16 gene marker region is located at 9p21.3, and the chromosomal centromere probes are labeled with a specific alpha satellite sequences.
The most common genetic alteration of urinary transitional epithelial cell carcinoma is the partial or total loss of chromosome 9 (e.g. p16 locus). In addition, the development of urinary transitional epithelial cell carcinoma is closely linked to chromosomal instability. In particular, it is closely related to the aneuploidy of chromosomes 3, 7, and 17. FISH is a non-invasive test, which can detect exfoliated cells in patient’s urine. If there are two or more abnormalities in the above four indicators, or if one of the indicators has a complex abnormality, it can be determined as the urinary system transitional epithelial cell carcinoma.
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