Lynch syndrome in upper tract urothelial carcinoma: significance, screening, and surveillance

Benjamin Pradere, Yair Lotan, Morgan Roupret

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Abstract

PURPOSE OF REVIEW: Lynch syndrome is a genetic syndrome that integrates a large spectrum of cancers caused by germline mutations in mismatch repair genes. Its incidence is underestimated due to a lack of systematic screening in the population. Because upper tract urothelial carcinoma is the third-most common cancer associated with the syndrome, urologists should be aware of the diagnostic pathway. RECENT FINDINGS: Lynch syndrome can be positively diagnosed after the three following distinct steps: meeting the clinical criteria, tissue and genetic testing, and familial genetic counseling. It must be suspected for patients with upper tract urothelial carcinoma before the age of 60 years and in cases of evocative personal/familial medical histories. When a diagnosis is suspected, immunohistochemistry and Polymerase Chain Reaction are the next steps to confirm the diagnosis. After confirmation, the key to management is a good surveillance to prevent disease recurrence using urinary analysis and imaging as well as screening of first-degree relatives. SUMMARY: Despite the lack of high-level studies of upper tract urothelial carcinoma in Lynch syndrome, its prevalence is not negligible. Thus, expert recommendations are required for its management. Individuals and family should be informed of the importance of close screening and surveillance.

Original languageEnglish (US)
JournalCurrent Opinion in Urology
DOIs
StateAccepted/In press - Aug 16 2016

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ASJC Scopus subject areas

  • Urology

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