Adenomas and Beyond: Colonoscopy Surveillance, Racial and Socioeconomic Disparities in Lynch Syndrome

Area of Science:

• Gastroenterology
• Oncology
• Genetics

Background:

• Lynch syndrome, caused by mismatch repair (MMR) gene mutations, increases colorectal cancer (CRC) risk.
• Adenoma resection is a key preventive strategy for CRC.
• The occurrence of precancerous lesions like adenomas and sessile serrated lesions (SSLs) in Lynch syndrome patients requires further study.

Purpose of the Study:

• To investigate racial and socioeconomic disparities in adenoma, SSL, and CRC occurrence during initial colonoscopy in Lynch syndrome patients.
• To analyze the association between MMR gene subtypes and the development of adenomas or SSLs during follow-up colonoscopies.

Main Methods:

• Retrospective cohort study of 187 Lynch syndrome patients.
• Analysis of data from first and follow-up colonoscopies.
• Stratification by race, socioeconomic status (SES), and MMR gene subtype (MLH1, MSH2, MSH6).

Main Results:

• At first colonoscopy, 23% had SSLs, 8.6% had adenomas, and 17.1% had CRC. No racial or SES differences in adenoma/SSL occurrence were found.
• Lower SES patients had higher odds of CRC at first colonoscopy (OR: 1.24).
• MSH6 carriers showed higher odds of adenoma/SSL during follow-up compared to MLH1 and MSH2 carriers.

Conclusions:

• MSH2 carriers had the highest adenoma/SSL rates at first colonoscopy, while MSH6 carriers faced the highest risk during follow-up.
• Lower SES is linked to increased CRC risk at initial screening in Lynch syndrome.
• MMR subtype influences the risk and timing of precancerous lesion development in Lynch syndrome.