Original Investigation

Colorectal Cancer Surveillance in Portuguese Families with Lynch Syndrome: A Cohort Study

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Rita Vale Rodrigues
Isabel Claro
Pedro Lage
Isadora Rosa
Sara Ferreira
João Pereira da Silva
António Dias Pereira
Colorectal cancer, Adenomas, Lynch syndrome, Surveillance, Colonoscopy


PURPOSE: Lynch syndrome (LS) is associated with a high risk of colorectal cancer (CRC). The aim of this study was to assess the cumulative risk for the development of colorectal adenomas or carcinomas in a LS CRC surveillance program and to audit the quality of the endoscopic procedures.
METHODS: We evaluated 147 asymptomatic LS mutation carriers, without previous CRC, in a surveillance program with colonoscopy every 12–18 months, between 2005 and 2016. Data was obtained by retrospective review of colonoscopy reports and hospital clinical files. The main outcome was assessed using Kaplan–Meier curves. Logistic regression was used to study the risk of developing adenomas.
RESULTS: Patients were under surveillance for 1092 observation years (mean, 7.7 years/patient). Most exams presented adequate bowel preparation (83.5%) and 99.2% achieved cecal intubation. The estimated risk for adenomas at age 60 was 75.6% in men (95%CI, 60.5–88.3) and 65.5% in women (95%CI, 50.8–79.7). Male gender (OR 2.4; 95%CI, 1.2–4.9; p = 0.018) and age at start of surveillance > 40 years (OR 3.7; 95%CI, 1.8–7.7; p < 0.001) were independent risk factors for adenoma detection. CRC was diagnosed in 11 patients with an estimated cumulative risk at age 60 of 18.4% (95%CI, 9.2–34.8%); 72.7% of CRC were classified as stage I; no patient died from CRC.
CONCLUSION: A colonoscopic surveillance program in LS patients allowed the detection of adenomas in a large group of mutation carriers and diagnosis of early-stage carcinomas. Our findings may help other teams to adopt similar strategies or to refer patients early to specialized centers.

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Original Investigation
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Rita Vale Rodrigues, Gastroenterology Department, Instituto Português de Oncologia de Lisboa de Francisco Gentil, Lisbon, Portugal.

Rita Vale Rodrigues,
©Springer-Verlag GmbH Germany, part of Springer Nature 2018
E-mail: rita.vale.rodrigues@gmail.com