Detection of bladder cancer by analysis of urine DNA

Bladder cancer is a common cancer with 1500 new cases in Denmark every year. The most common bladder neoplasm is the transitional cell tumour, which presents either as a non-invasive or invasive form (transitiocellular carcinoma). Non-invasive tumours constitute around 50% of all newly diagnosed bladder tumours and although they are not as such life threatening they have a high recurrence rate of up to 80% and a progression rate up to 20%. Life long control is therefore mandatory. Control is done by cystoscopy which is uncomfortable for the patients, time and resource consuming. It is therefore optimal to develop a non-invasive test for detection of bladder cancer. In order to do this, we have systematically screened DNA from urine sediment and tumour biopsies from 120 primary bladder tumour patients and 40 control patients for mutations in FGFGR3, HRAS, KRAS, NRAS, PIK3CA and TP53. On the same patient material, we have also quantitatively determined the methylation status of a panel of 10 tumour suppressor genes. Our data shows that analysis of the mutational status of FGFR3 and PIK3CA combined with analysis of the methylation status of a representative panel of tumour suppressor genes might prove to be a useful non-invasive diagnostic test for bladder cancer.