Chromosome 9 aberrations by fluorescence in situ hybridisation in bladder transitional cell carcinoma

To investigate the role of the monosomy 9 in bladder carcinogenesis, 96 cases of superficial bladder transitional cell carcinoma (TCC) were studied and followed periodically for around 3 years (mean+/-standard error of the mean (SEM); 3.46+/-0.34 years). Samples from bladder washings were analysed by fluorescent in situ hybridisation (FISH) to detect numerical anomalies of chromosome 9. Moreover, to evaluate the relative under representation of this chromosome, we detected numerical changes of chromosome 8 and DNA ploidy by flow cytometric analysis (FCM). Chromosome 8 copy number were related to FCM DNA ploidy and both were related with tumour grade. Monosomy 9 did not correlate with tumour grade, stage, chromosome 8 aneuploidies and abnormal DNA content, but correlated with tumour progression. Comparing the results in the primary and subsequent tumours, we observed an increase in the frequency of aneuploidies by FCM, associated with an increase of chromosome 8 polysomies. The mean chromosome 9 copy number/nucleus remained nearly the same in most of the primary and invasive tumours. Our results confirm that monosomy 9 is an early event and that it is retained during tumour progression and invasion and that the loss occurs before the tetraploidisation process. The relationship between the presence of a sub-population with monosomy 9 and tumour progression suggests the presence of a region that could have a role in the progression of superficial bladder TCC.