Urothelial carcinoma of the upper urinary tract diagnosed via FGFR3 mutation detection in urine: a case report.

BACKGROUND: Upper urinary tract cancer is typically diagnosed with urine cytology and imaging techniques. These assays can be limited by sensitivity, specificity, or technical issues making some diagnoses difficult. CASE PRESENTATION: A 73-year old man presented to the clinic with a right renal pelvis filling defect that was detected by a CT-scan performed for unrelated reasons. Urine cytology was negative. Cystoscopy, retrograde pyelogram, and partial ureteroscopy were unable to visualize the lesion resulting in an indeterminate diagnosis. A subsequent CT scan confirmed the renal lesion which appeared to have become larger and was consistent with urothelial carcinoma. A urine based genetic assay was used to test for the presence of urothelial carcinoma. This assay evaluates the presence of mutations in fibroblast growth factor receptor 3 (FGFR3). Mutations in FGFR3 are known to be associated with urothelial carcinoma and have a positive predictive value of 95% when detected in patients with no history of TCC. A mutation in exon 10 (Y375C) of FGFR3 was identified. Nephroureterectomy was performed and the subsequent pathology confirmed urothelial carcinoma. In addition, PCR analysis on isolated tumor tissue indicated the tumor carried the same FGFR3 mutation as that of the DNA isolated from urine, consistent with the tumor being the origin of the mutant DNA. CONCLUSION: This study indicates that the FGFR3 urine assay, which was originally developed to monitor bladder cancer, is also a useful tool for diagnosing upper urinary tract cancer in a real-life setting.

The need for voiding diaries in the evaluation of men with nocturia.

In a study to assess the need for voiding diaries in the evaluation of men with nocturia, 337 consecutive male patients were asked to estimate their number of voiding episodes per night. Patients were placed into seven separate groups based on the number of estimated number of voiding episodes. These patients used a voiding diary to track their voiding habits for 1 week. The mean number of voiding episodes recorded in the diaries were then compared with the subjects' original estimations. The estimated number of voiding episodes correlated with the mean number of diary-recorded voiding episodes 48% of the time. Correlation was highest for patients reporting few episodes per evening and lowest for those reporting five or six episodes per night. The study findings suggest that voiding diaries are essential in helping to determine the actual number of voiding episodes per night and that the need for a voiding diary becomes more important as the perceived amount of nocturia increases.