Upper tract urothelial carcinoma associated with Lynch syndrome

PURPOSE OF REVIEW: This review outlines the molecular biology, diagnostic tools, screening strategies, and management options of Lynch syndrome (LS)-associated upper tract urothelial carcinoma (LS-UTUC). RECENT FINDINGS: 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. SUMMARY: 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.