Urothelial Cancer Screening in Individuals With Lynch Syndrome Using a Urine Tumor DNA Panel (LS-URO Study)

Tampere University Hospital

Status: Enrolling

Conditions: Lynch Syndrome; Urothelial Carcinoma

Treatments: Diagnostic Test: Urothelial cancer screening using urine tumor DNA test; Diagnostic Test: Urothelial cancer screening using urine cytology (comparator)

Study type: Interventional

Funder types: Other

Identifiers

NCT06218433

R22125 (Other Identifier)

Details and patient eligibility

About

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.

Enrollment: 200 estimated patients

Sex: All

Ages: 50 to 75 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Willing and able to provide informed consent
• Diagnosis of Lynch syndrome
• Age 50 - 75 years at study recruitment

Exclusion criteria

• Concurrent urothelial carcinoma

Trial design

Primary purpose: Screening

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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200 participants in 1 patient group

Screening arm

Experimental group

Description:

Invitation to participate in urothelial cancer screening and questionnaires

Treatment:

Diagnostic Test: Urothelial cancer screening using urine cytology (comparator)

Diagnostic Test: Urothelial cancer screening using urine tumor DNA test