Management and Surveillance for a 68-Year-Old Male with Lynch Syndrome and History of RCC
Colorectal Cancer Surveillance
Continue colonoscopy every 1-2 years indefinitely, as surveillance reduces colorectal cancer mortality by 94% and extends life expectancy by approximately 7 years in Lynch syndrome patients. 1, 2
- At age 68, do not extend surveillance intervals beyond 2 years, as no upper age limit exists for colonoscopy in Lynch syndrome and accelerated carcinogenesis occurs regardless of age 2, 3
- The 1-2 year interval is critical because most colorectal cancers in Lynch syndrome patients under surveillance are detected within these intervals at treatable stages 1, 2
- Decisions to continue surveillance should be based on overall health status and life expectancy rather than chronological age alone 2
Aspirin Chemoprevention
Offer aspirin 600 mg daily for cancer prevention after discussing risks and benefits, as this reduces colorectal cancer incidence by 44% beyond colonoscopy surveillance alone. 1, 2
- The protective effect extends to other Lynch syndrome-associated cancers with a hazard ratio of 0.65 for all Lynch cancers 2
- Weigh the 1% risk of gastrointestinal bleeding and <1% risk of stroke against cancer prevention benefits 1
- While the optimal dose remains uncertain, the 600 mg daily dose is supported by the highest quality randomized controlled trial evidence 1
Urinary Tract Cancer Surveillance
Perform annual urinalysis starting immediately, with a threshold of ≥3 RBCs/HPF to trigger further evaluation, given his history of RCC and Lynch syndrome. 1
- His RCC history places him in a high-risk category requiring more intensive urinary tract surveillance 1
- If hematuria (≥3 RBCs/HPF) is detected, proceed immediately to CT urography and cystoscopy with consideration of retrograde studies 1
- Do not rely on urinary cytology or NMP-22 alone due to low sensitivity (29%), but these can be used in combination with urinalysis 1
- Maintain high clinical suspicion for any new urinary symptoms, as patients with prior UTUC/RCC have established disease risk 1
Gene-Specific Considerations for Urinary Surveillance
- If the patient carries an MSH2 mutation, intensify surveillance as this confers up to 28% lifetime risk of upper tract urothelial cancer in males 1, 2
- MSH6 mutations carry lower urinary tract cancer risk (1.7%) compared to MSH2 (6.9%) 1
RCC-Specific Follow-Up
Continue standard RCC surveillance based on the tumor's original stage, grade, and performance status, as most recurrences occur within the first 5 years but can occur later. 4
- Follow institutional protocols for RCC surveillance, which typically include chest imaging and abdominal imaging at risk-stratified intervals 4
- The history of RCC does not change Lynch syndrome surveillance requirements but adds an additional surveillance burden 1
Upper Gastrointestinal Surveillance
Consider upper endoscopy with testing and treatment for Helicobacter pylori, particularly if the patient has MLH1 or MSH2 mutations or Asian descent. 1, 3
- Upper endoscopy extended to the distal duodenum or jejunum every 3-5 years starting at age 30-35 is recommended for selected individuals, though at age 68 this should be individualized based on family history of gastric cancer 1
- Test and treat H. pylori given the increased gastric cancer risk in Lynch syndrome 1, 3
Genetic Counseling for Family Members
Encourage first-degree relatives to undergo genetic counseling and testing, as they have a 50% chance of carrying the same mutation. 2, 5
- Approximately 95% of relatives who receive counseling choose to undergo genetic testing 2, 5
- Understanding the specific mismatch repair gene mutation (MLH1, MSH2, MSH6, or PMS2) helps refine cancer risk estimates for family members 2, 5
Critical Pitfalls to Avoid
- Never extend colonoscopy intervals beyond 2 years despite the patient's age, as accelerated tumor growth occurs in Lynch syndrome with progression from adenoma to carcinoma potentially taking less than 3 years 1, 2
- Do not dismiss new gastrointestinal or genitourinary symptoms as age-related without thorough evaluation given his dual cancer predisposition 2
- Avoid using urinary cytology alone for urinary tract surveillance due to its low sensitivity (29%) for detecting upper tract disease 1
- Do not assume RCC surveillance replaces Lynch syndrome-specific urinary surveillance, as these address different cancer risks and require parallel monitoring 1