Detection of urothelial carcinoma in Lynch syndrome using microsatellite instability analysis of urine cell-free DNA.

ABSTRACT:

Background

Urothelial carcinoma is the third most common cancer in Lynch syndrome but there is no approved screening method. Lynch syndrome cancers are characterised by high levels of microsatellite instability (MSI/MSI-H). Here, we assess the feasibility of urine MSI analysis for non-invasive urothelial carcinoma screening.

Methods

We analysed urine cell-free DNA samples from two cohorts using an amplicon-sequencing MSI assay: (1) Sequential cases of upper tract urothelial carcinoma (UTUC) provided paired tumour/pre-operative urine samples for MSI analysis and mismatch repair protein immunohistochemistry (MMR IHC) and those with an MMR deficient (MMRd) tumour were offered constitutional Lynch syndrome testing (2) Eligible individuals with a diagnosis of MSH2-Lynch syndrome

SUBMITTER: Hall R 

PROVIDER: S-EPMC12595274 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature