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DOI: 10.1055/s-0038-1637069
IDENTIFICATION OF CLINICAL, GENETIC AND ENDOSCOPIC PREDICTORS OF INCIDENT COLORECTAL CANCER IN LYNCH SYNDROME UNDER COLONOSCOPY SCREENING
Publication History
Publication Date:
27 March 2018 (online)
Aims:
Lynch syndrome (LS) families have a high risk of colorectal cancer (CRC) development. Colonoscopy every < 3 years decreases CRC incidence and mortality. However, recent studies show that up to 40% develop CRC during colonoscopy follow-up. Our aim is to assess the clinic-pathological, genetic and endoscopy quality measures that are predictors of CRC during colonoscopy surveillance in LS carriers.
Methods:
Multicenter nation-wide study with retrospective collection of prospectively observed data from high-risk clinics. Demographic, genetic, family and personal cancer history, and surveillance protocols data were collected between 2015 – 2017. First prospectively colonoscopy planned as LS screening was considered as date of inclusion. Cumulative incidence of the first CRC diagnosed under screening was calculated by gene/gender. CRCs diagnosed prior or within the first colonoscopy (prevalent cancers) were excluded. Additionally, endoscopic factors of CRC were analyzed.
Results:
We included 1,108 LS cases, 631 (56.9%) female, median age of 53 years (SD: 15.4), and a median follow-up of 58.4 months (SD: 53.7). Distribution per gene was: 449 (40.4%) MLH1, 372 (33.6%) MSH2, 197 (17.9%) MSH6 and 23 (2.1%) EPCAM. The prevalence of CRC was 38.4% (426). Healthy carriers (649) with proven endoscopic surveillance were selected (n = 539) observing 17/539 (3.15%) incident CRC during endoscopic screening: 7/192 MLH1, 9/192 MSH2, 1/113 MSH6, 0/37 PMS2 and 0/5 EPCAM. Inadequate endoscopic follow-up was present in 7/17 incident CRC including longer than 3 years interval (n = 4) or inadequate bowel-cleansing (n = 3). Cumulative CRC incidence at 70 years under endoscopic follow-up was calculate per gen: 13.8% (95% CI: 5.9 – 10.4%) for MLH1; 18.5% (95% CI: 8.8 – 36.4%) for MSH2 and 1% (95% CI: 0.15 – 7.1%) for MSH6; and gender: 16.7% (95% CI: 8 – 21.1%) males and 8.7% (95% CI: 3.9 – 19%) females.
Conclusions:
A preliminary analysis of this large multicenter study, reveals that cumulative incidence of a first CRC under screening colonoscopy is lower than previously published. Our results suggest that colonoscopy is highly effective for CRC prevention in LS, and that high quality endoscopic standards are key for its effectiveness.
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