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Colorectal cancer surveillance in Portuguese families with lynch syndrome: a cohort study

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International Journal of Colorectal Disease Aims and scope Submit manuscript

Abstract

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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Acknowledgements

The authors thank the nurses working at the Gastroenterology Department, to Paula Rodrigues, Joana Parreira, and Carla Simões, who are part of the staff at the Familial Cancer Risk Clinic, and to Inês Francisco, Bruno Filipe, and Cristina Albuquerque, who are members of the Molecular Pathobiology Research Unit of IPOLFG. The authors also thank Djøra Soeteman, who works at the Center for Health Decision Science at the Harvard T.H. Chan School of Public Health, for reviewing the manuscript.

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Authors and Affiliations

  1. Gastroenterology Department, Instituto Português de Oncologia de Lisboa de Francisco Gentil, Rua Prof. Lima Basto, 1099-023, Lisbon, Portugal

    Rita Vale Rodrigues, João Pereira da Silva & António Dias Pereira

  2. Gastroenterology Department and Familial Cancer Risk Clinic, Instituto Português de Oncologia de Lisboa de Francisco Gentil, Lisbon, Portugal

    Isabel Claro, Pedro Lage, Isadora Rosa & Sara Ferreira

Authors
  1. Rita Vale Rodrigues
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  2. Isabel Claro
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  3. Pedro Lage
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  4. Isadora Rosa
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  5. Sara Ferreira
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  6. João Pereira da Silva
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  7. António Dias Pereira
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Contributions

Rita Vale Rodrigues was responsible for conception and design, analysis and interpretation of the data, and drafting of the article; Isabel Claro, Pedro Lage, Isadora Rosa, and Sara Ferreira were involved in conception and design, interpretation of the data, and critical revision of the article for important intellectual content; João Pereira da Silva and António Dias Pereira were involved in interpretation of the data and critical revision of the article for important intellectual content.

Corresponding author

Correspondence to Rita Vale Rodrigues.

Ethics declarations

The study protocol conforms to the ethical guidelines of the 1975 Declaration of Helsinki. Written informed consent was obtained from each patient for genetic diagnosis. All patients included in the study accepted to participate in endoscopic surveillance.

Conflict of interest

The authors declare that there is no conflict of interest.

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Vale Rodrigues, R., Claro, I., Lage, P. et al. Colorectal cancer surveillance in Portuguese families with lynch syndrome: a cohort study. Int J Colorectal Dis 33, 695–702 (2018). https://doi.org/10.1007/s00384-018-3002-1

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  • DOI: https://doi.org/10.1007/s00384-018-3002-1

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