Urothelial Cancer Screening in Individuals With Lynch Syndrome Using a Urine Tumor DNA Panel (LS-URO Study)
- Conditions
- Urothelial CarcinomaLynch Syndrome
- Interventions
- Diagnostic Test: Urothelial cancer screening using urine tumor DNA testDiagnostic Test: Urothelial cancer screening using urine cytology (comparator)
- Registration Number
- NCT06218433
- Lead Sponsor
- Tampere University Hospital
- Brief Summary
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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 200
- Willing and able to provide informed consent
- Diagnosis of Lynch syndrome
- Age 50 - 75 years at study recruitment
- Concurrent urothelial carcinoma
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description Screening arm Urothelial cancer screening using urine tumor DNA test Invitation to participate in urothelial cancer screening and questionnaires Screening arm Urothelial cancer screening using urine cytology (comparator) Invitation to participate in urothelial cancer screening and questionnaires
- Primary Outcome Measures
Name Time Method Sensitivity and specificity of positive utDNA for urothelial cancer within one year of follow-up At 1 years 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
- Secondary Outcome Measures
Name Time Method Size of urothelial tumors At 2, 5 and 10 years of follow-up Maximum diameter of urothelial tumors found in utDNA positive and negative patients
Sensitivity and specificity of positive utDNA for urothelial cancer within multiple years of follow-up At 2, 5, and 10 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
Overall survival At 5 and 10 years of follow-up Overall survival in utDNA positive and negative patients
Urothelial cancer specific survival At 3, 5 and 10 years of follow-up Urothelial cancer specific survival survival in utDNA positive and negative patients
Time to metastatic urothelial cancer At 5 and 10 years of follow-up Time to metastatic urothelial cancer in utDNA positive and negative patients
Time to diagnosis of urothelial cancer At 2, 5 and 10 years of follow-up Time to diagnosis of urothelial cancer in utDNA positive and negative patients
Urothelial cancer grade At 2, 5 and 10 years of follow-up The World Health Organization (WHO) 2004/2016 grading of urothelial cancers found in utDNA positive and negative patients
Specificity of positive utDNA for urothelial cancer at the time of testing After all patients with positive utDNA have been evaluated with cystoscopy and/or imaging 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 to diagnosis of muscle invasive or high grade urothelial cancer At 2, 5 and 10 years of follow-up Time to diagnosis of muscle invasive or high grade urothelial cancer in utDNA positive and negative patients
TNM pathological stage of urothelial cancers At 2, 5 and 10 years of follow-up TNM pathological stage (American Joint Committee on Cancer (AJCC)/International Union Against Cancer (UICC)) of urothelial cancers found in utDNA positive and negative patients
Trial Locations
- Locations (2)
Vancouver Prostate Centre
🇨🇦Vancouver, Canada
Tampere University Hospital and Tampere University
🇫🇮Tampere, Finland