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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.
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