abstract
Purpose
Lynch
syndrome, also known as hereditary nonpolyposis colorectal cancer, is a
common genetic disease.
The predisposition of patients with Lynch
syndrome to urological cancer, particularly upper tract urothelial
carcinoma, is underappreciated. Urologists may be involved in several
aspects of care involving Lynch syndrome, including identifying
undiagnosed patients, surveillance of those with established Lynch
syndrome or screening family members, in addition to treating patients
with Lynch syndrome in whom upper tract urothelial carcinoma develops.
We sought to increase awareness in the urological community about Lynch
syndrome and provide some guidance where little currently exists.
Materials and Methods
Using
the PRISMA (Preferred Reporting Items for Systematic Reviews and
Meta-Analyses) statement
we reviewed the available published literature
and guidelines from 1998 to 2014 on Lynch syndrome and its association
with upper tract urothelial carcinoma. Recommendations based on the
literature and the consensus of expert opinion are provided.
Results
No
randomized or prospective study has been done to evaluate Lynch
syndrome in the setting of urological cancer. All data were based on
retrospective studies. Lynch syndrome is an autosomal dominant genetic
disease caused by germline mutations in 4 mismatch repair genes, leading
to the accumulation of DNA errors in microsatellite regions.
Upper
tract urothelial carcinoma develops in up to 28% of patients with known
Lynch syndrome. The diagnosis of Lynch syndrome is established by
clinical criteria, tumor tissue testing and genetic evaluation.
Urologists should suspect Lynch syndrome when a patient with upper tract
urothelial carcinoma presents before age 60 years or meets the
3-2-1 rule. Screening patients with Lynch syndrome for upper tract urothelial
carcinoma presents a particular challenge. While no ideal screening test
exists, at a minimum routine
urinalysis is recommended using the AUA
guideline of 3 or more red blood cells per high power field as a trigger
for further assessment. Upper tract urothelial carcinoma associated
with Lynch syndrome presents at a
younger age than sporadic upper tract
urothelial carcinoma. It shows a higher proportion of ureteral cancer
with a female preponderance and a possible predisposition to
bilaterality.
Conclusions
Lynch
syndrome is a common genetic disease that is an underappreciated cause
of upper tract urothelial carcinoma and possibly other urological
cancers. Optimal screening for upper tract urothelial carcinoma in this
population is unclear. Further study is needed to identify the best
screening test and interval of testing. Urologists should consider
routine tissue testing of de novo upper tract urothelial carcinoma
tissue in individuals at risk.
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