Retrospective Cohort Study
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Oncol. Nov 24, 2021; 12(11): 1023-1036
Published online Nov 24, 2021. doi: 10.5306/wjco.v12.i11.1023
Uptake and outcomes of small intestinal and urinary tract cancer surveillance in Lynch syndrome
Jeshua DeJesse, Ravy K Vajravelu, Christina Dudzik, Gillain Constantino, Jessica M Long, Kirk J Wangensteen, Kathleen D Valverde, Bryson W Katona
Jeshua DeJesse, Kathleen D Valverde, Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, United States
Ravy K Vajravelu, Christina Dudzik, Gillain Constantino, Kirk J Wangensteen, Bryson W Katona, Division of Gastroenterology and Hepatology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States
Jessica M Long, Division of Hematology and Oncology, University of Pennsylvania, Philadelphia, PA 19104, United States
Author contributions: All the authors solely contributed to this paper.
Supported by NIH, No. 5R03DK120946-02.
Institutional review board statement: This study was granted a Waiver of Informed Consent from the University of Pennsylvania IRB. They deemed the study minimal risk for patients.
Informed consent statement: All study participants or their legal guardian provided informed written consent about personal and medical data collection prior to study enrolment.
Conflict-of-interest statement: BWK – Janssen Pharmaceuticals (travel) and Exact Sciences (consulting).
Data sharing statement: No additional data are available.
STROBE statement: The authors have read the STROBE Statement—checklist of items, and the manuscript was prepared and revised according to the STROBE Statement—checklist of items.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Bryson W Katona, MD, PhD, Assistant Professor, Division of Gastroenterology and Hepatology, University of Pennsylvania Perelman School of Medicine, 3400 Civic Center Blvd, 751 South Pavilion, Philadelphia, PA 19104, United States. bryson.katona@pennmedicine.upenn.edu
Received: April 13, 2021
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
Processing time: 219 Days and 19.1 Hours
ARTICLE HIGHLIGHTS
Research background

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.

Research motivation

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.

Research objectives

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.

Research methods

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.

Research results

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.

Research conclusions

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.

Research perspectives

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.