Upper tract urothelial carcinoma associated with Lynch syndrome
R Chelluri1, S Kovell2, F Montanaro3
1Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
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.
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