Background: Upper tract urothelial
carcinoma (UTUC) is an uncommon disease that is diagnosed clinically by the selective use of urine cytology, urine
biomarkers, and imaging of the upper tract. We present a case of a patient with
Lynch syndrome and high-grade UTUC that was diagnosed by an abnormal Cxbladder assay, prompting further endoscopic examination. Case Presentation: A 59-year-old Caucasian female with a history of
endometrial cancer and
bladder cancer with
Lynch syndrome presented for evaluation of recurrent urothelial
carcinoma. Her previous
bladder tumors have been T1 high grade and Ta high grade and have been treated with resection and multiple cycles of intravesical Bacillus Calmette-Guerin (BCG)
therapy. She had also undergone a robotic left distal ureterectomy and psoas hitch for a high-grade distal ureteral
tumor. Surveillance cystoscopy 7 months after revealed a biopsy-confirmed
bladder tumor, which was resected, and she was started on maintenance BCG
therapy. At presentation, follow-up urine cytology and UroVysion studies were negative. Cxbladder test was also initially negative. However, during close clinical monitoring, the Cxbladder test became positive. Cystoscopy was once more performed, which was unremarkable. Bilateral ureteroscopy was performed, revealing high-grade upper tract renal
papillary carcinoma (UTUC) in the left renal pelvis. The patient declined a
nephroureterectomy. She was treated with two sessions of
holmium laser ablation of the left renal pelvis
tumor and underwent 6 weekly courses of BCG +
interferon instilled into her left renal pelvis using a 5F open-ended
catheter. Repeat urine cytology, UroVysion, and Cxbladder tests were negative after completion of upper tract BCG
therapy. Conclusion: Cxbladder test may be useful and an adjunct to urine cytology and the UroVysion FISH assay to evaluate patients at high risk for recurrent UTUC.