Objectives: To investigate the chromosomal abnormalities present in bladder carcinoma using a fluorescence in situ hybridization assay and to correlate the genetic findings with the pathologic grade and stage.
Methods: Samples from 37 bladder carcinomas were obtained at cystectomy or transurethral resection. In all cases, a histologic evaluation and fluorescence in situ hybridization analysis were performed. Pericentromeric DNA probes for chromosomes 7, 8, 9, and 17, and locus-specific DNA-probes for the 9p21 and 9q34 bands, were used in the fluorescence in situ hybridization assay.
Results: Grade 1-2 tumors were characterized by the loss of genetic material on chromosome 9 in 35.3% of cases and either no detectable alterations or multiple aneusomy events in 47.1% and 17.6% of the tumors, respectively. Polysomy was the most frequent occurrence in grade 3 and pT1-T4 carcinomas. No significant difference was found between the loss of 9p21, 9q34, or chromosome 9 and the different tumor classifications. A statistically significant difference was found in the frequency of polysomy between grade 1-2 and grade 3 tumors and between pTa and pT1-T4 tumors for chromosomes 7, 8, 9, and 17, as well as chromosome bands 9p21 and 9q34 (P <0.005).
Conclusions: These findings show that chromosome 9 losses do not correlate with the tumor grade or stage, but are the only aberrations found at a significant frequency in low-grade lesions. The results suggest that pT1 tumors are closely related to muscle-invasive tumors at the genetic level and show that polysomy of the chromosomes assessed correlates with high-grade and high-stage bladder carcinoma.