Investigating the Association Between Cystic Fibrosis and Colorectal Neoplasia: A Matched Case–Control Study

Abstract

Background

Cystic fibrosis (CF) is an autosomal recessive disorder that has been associated with increased risk of colorectal neoplasia and cancer (CRC). Current consensus statements recommend early screening and surveillance colonoscopies for CRC in CF, though high-quality data supporting this remains lacking.

Methods

We performed a retrospective case–control study in a statewide CF referral center, comparing patients with CF and matched controls who underwent elective colonoscopy between 2010 and 2024.

Results

Two hundred and forty-five patients with CF were included and matched 1:1 to control cohort. Significantly higher number of patients in CF cohort had neoplastic lesions (51.8% vs. 24.1%, OR 3.41, 95%-CI 2.32–5.02, p < 0.0001), advanced lesions (16.3% vs. 10.2%, OR 1.76, 95%-CI 1.03–2.99, p = 0.039), and CRC (4.9% vs. 0.8%, OR 6.26, 95%-CI 1.39–28.26, p = 0.017). CRC-free survival was significantly lower in CF (log-rank p = 0.007). Age and lung transplant recipients were predictors on multivariate analysis for colorectal neoplasia. Incidence of CRC in asymptomatic patients with CF at initial colonoscopy was 5.5% and mean age of diagnosis was 40.5 years.

Conclusions

This study highlights the increased association of CF with colorectal neoplasia and CRC, and the need for careful screening and surveillance via colonoscopy.