An interventional study of Urothelial cancer screening using urine tumor DNA test and Urothelial cancer screening using urine cytology (comparator) in Urothelial Carcinoma and Lynch Syndrome, sponsored by Tampere University Hospital. Recruiting at 2 sites in 2 countries. Open to participants aged 50 Years to 75 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2025-11-18.
Sponsored by Tampere University Hospital · Not applicable, Interventional, and Screening
Lynch syndrome (LS) is an inherited cancer predisposition syndrome caused by pathogenic germline variants in DNA mismatch repair (MMR) genes. New cancer screening and diagnostic tools are urgently needed to identify LS-related cancers early enough for curative treatment. Urothelial cancers (comprising bladder and upper tract urothelial tumors) are the third most common cancer after colorectal and endometrial cancers in individuals with LS. Up to one in four LS individuals will develop urothelial cancer during their lifetime, with the risk varying based on the defective MMR gene. In this clinical trial, we will employ urine tumor DNA (utDNA) to identify asymptomatic urothelial cancers in Lynch syndrome patients, and to investigate the potential benefits of urine tumor DNA based screening in this high-risk population.
716 studies on the registry are indexed under Carcinoma, Transitional Cell; 201 are open to participants now.
This study's planned enrollment of 200 is above the median of 49 across 549 interventional studies indexed under Carcinoma, Transitional Cell.
Browse Carcinoma, Transitional Cell studies →Tampere University Hospital is the lead sponsor of 209 studies on the registry; 56 are open to participants now.
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Exclusion Criteria:
Invitation to participate in urothelial cancer screening and questionnaires
Diagnostic Test: Urothelial cancer screening using urine tumor DNA test · Diagnostic Test: Urothelial cancer screening using urine cytology (comparator)
Urine sample DNA is analyzed using a targeted sequencing panel encompassing the coding regions of 21 genes that are recurrently mutated in urothelial cancer
Urine cytology sample
Sensitivity and specificity of positive utDNA for urothelial cancer within one year of follow-up
Sensitivity and specificity of positive utDNA for urothelial cancer, using histologically verified cancers detected within 1 year of the utDNA test as ground truth
Time frame: At 1 years of follow-up
Specificity of positive utDNA for urothelial cancer at the time of testing
Specificity of positive utDNA test for urothelial cancer, using histologically verified cancers detected in the cystoscopy and/or imaging performed due to positive utDNA test as the ground truth
Time frame: After all patients with positive utDNA have been evaluated with cystoscopy and/or imaging
Sensitivity and specificity of positive utDNA for urothelial cancer within multiple years of follow-up
Sensitivity and specificity of positive utDNA for urothelial cancer, using histologically verified cancers detected within 2, 5, and 10 years of the utDNA test as ground truth
Time frame: At 2, 5, and 10 years of follow-up
Overall survival
Overall survival in utDNA positive and negative patients
Time frame: At 5 and 10 years of follow-up
Urothelial cancer specific survival
Urothelial cancer specific survival survival in utDNA positive and negative patients
Time frame: At 3, 5 and 10 years of follow-up
Time to metastatic urothelial cancer
Time to metastatic urothelial cancer in utDNA positive and negative patients
Time frame: At 5 and 10 years of follow-up
Time to diagnosis of muscle invasive or high grade urothelial cancer
Time to diagnosis of muscle invasive or high grade urothelial cancer in utDNA positive and negative patients
Time frame: At 2, 5 and 10 years of follow-up
Time to diagnosis of urothelial cancer
Time to diagnosis of urothelial cancer in utDNA positive and negative patients
Time frame: At 2, 5 and 10 years of follow-up
TNM pathological stage of urothelial cancers
TNM pathological stage (American Joint Committee on Cancer (AJCC)/International Union Against Cancer (UICC)) of urothelial cancers found in utDNA positive and negative patients
Time frame: At 2, 5 and 10 years of follow-up
Size of urothelial tumors
Maximum diameter of urothelial tumors found in utDNA positive and negative patients
Time frame: At 2, 5 and 10 years of follow-up
Urothelial cancer grade
The World Health Organization (WHO) 2004/2016 grading of urothelial cancers found in utDNA positive and negative patients
Time frame: At 2, 5 and 10 years of follow-up
Sensitivity and specificity of urine cytology
Sensitivity and specificity of urine cytology for detecting urothelial cancer, using histologically verified cancers detected within 1 year of cytology as ground truth
Time frame: At 1 year of follow-up
Association of utDNA fraction with time to diagnosis of urothelial cancer
Association of utDNA fraction (quantified based on mutation allele fractions in urine DNA) with time to diagnosis of urothelial cancer
Time frame: At 2, 5 and 10 years of follow-up
Prevalence of somatic second hit in MMR genes
Prevalence of somatic second hit and additional somatic hits in mismatch repair genes (MSH2, MSH6, MLH1, PMS2) in Lynch syndrome patients diagnosed with urothelial cancer
Time frame: At 1, 2, 5 and 10 years of follow-up
Cost of utDNA screening
Analysis of the cost of utDNA screening, including cost per urothelial cancer found
Time frame: At 1, 2, 5 and 10 years of follow-up
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Tampere University Hospital