Published online Nov 24, 2021. doi: 10.5306/wjco.v12.i11.1023
Peer-review started: April 13, 2021
First decision: July 3, 2021
Revised: July 26, 2021
Accepted: October 14, 2021
Article in press: October 14, 2021
Published online: November 24, 2021
Lynch syndrome (LS) is an autosomal dominant cancer predisposition syndrome resulting from a disease-causing variant in the MLH1, MSH2, MSH6, PMS2, or EPCAM gene. LS is primarily associated with increased colorectal and endometrial cancer risk, but it is also associated with increased risk of small intestinal cancer (SIC) and urinary tract cancer (UTC). Cancer surveillance management for SIC and UTC has yet to be standardized for LS patients due to a lack of proven efficacy for current surveillance methods, and data regarding provider and patient interest in the current SIC and UTC surveillance methods are also lacking.
This study was interested in describing the efficacy and impact of completed SIC and UTC surveillance exams in a cohort of 317 LS patients. In addition, we were interested in patients’ decisions about whether to pursue surveillance despite the limited evidence on efficacy and varying guideline recommendations and whether these individuals successfully completed surveillance.
To characterize the uptake and outcomes of SIC and UTC surveillance among LS patients at a tertiary care referral center. We intended to analyze the factors influencing individuals' surveillance behaviors and to calculate the yield of completed surveillance exams.
This was a retrospective study of individuals with LS seen at a tertiary care referral center. Information regarding SIC and UTC surveillance was captured for each individual. Additional demographic information and medical history was collected for individuals who had an initial LS management visit in our center’s dedicated high-risk LS clinic between January 1, 2017 and October 29, 2020 to allow for analysis of individuals' behaviors after engaging in an in-depth conversation regarding surveillance with a provider in the clinic. Statistical analysis using Pearson’s chi-squared test and Wilcoxon rank-sum test was completed, and a P value below 0.05 was deemed statistically significant.
Of the 317 individuals with LS in our cohort, 27% underwent a total of 105 SIC surveillance exams, and 31% underwent a total of 303 UTC surveillance exams. Each surveillance method was found to have a low positive predictive value and yield. A single UTC was diagnosed, and 0 SICs were diagnosed. Of 155 individuals who had an initial LS management visit between January 1, 2017 and October 29, 2020, a minority of individuals chose to undergo either SIC (41%) or UTC (37%) surveillance. Only 41% of individuals completed SIC surveillance, and 55% completed UTC surveillance when ordered. Several factors were found to be significantly associated with surveillance pursuit and completion, including age, sex, genotype, and provider.
This study observed a low positive predictive value and yield for completed SIC and UTC surveillance exams, and after an in-depth conversation on the limitations and benefits of SIC and UTC surveillance, there was limited interest for this surveillance among individuals with LS. At this time, there continues to be insufficient evidence to support widespread SIC and UTC surveillance in LS.
This study highlights the need for further research in SIC and UTC surveillance in LS. More data is needed on the cost of SIC and UTC surveillance and the effect of early detection of SIC and UTC on patient morbidity and mortality. Qualitative studies are also needed to elucidate patient perspectives regarding the addition of low-evidence surveillance exams to their cancer surveillance management.