This review outlines the molecular biology, diagnostic tools, screening strategies, and management options of Lynch syndrome (LS)-associated upper tract urothelial carcinoma (LS-UTUC).
LS is an autosomal dominant disease characterized by faulty mismatch repair during DNA replication. This manifests as an increased risk of developing LS-UTUC. Novel insights into oncogenesis, the role of upfront germline testing, and management are described.
Clinicians should be aware of the increased risk of developing UTUC in a patient who has LS. Conversely, clinicians should consider LS in patients who present with de novo UTUC. Clinical and molecular tools exist to aid in the diagnosis; the role of germline testing is evolving.
Current opinion in oncology. 2026 Apr 02 [Epub]
R Chelluri, S Kovell, F Montanaro, E Chandran, A Rouf Banday, Sandeep Gurram, Andrea B Apolo
Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland., Lake Erie College of Osteopathic Medicine Seton Hill, Greensburg, Pennsylvania, USA., Urology Unit, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy., Genitourinary Malignancies Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.