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Published in: Hereditary Cancer in Clinical Practice 1/2019

Open Access 01-12-2019 | Colonoscopy | Research

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report

Authors: Mev Dominguez-Valentin, Toni T. Seppälä, Julian R. Sampson, Finlay Macrae, Ingrid Winship, D. Gareth Evans, Rodney J. Scott, John Burn, Gabriela Möslein, Inge Bernstein, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepistö, Annika Lindblom, John-Paul Plazzer, Douglas Tjandra, Huw Thomas, Kate Green, Fiona Lalloo, Emma J. Crosbie, James Hill, Gabriel Capella, Marta Pineda, Matilde Navarro, Joan Brunet Vidal, Karina Rønlund, Randi Thyregaard Nielsen, Mette Yilmaz, Louise Laurberg Elvang, Lior Katz, Maartje Nielsen, Sanne W. ten Broeke, Sigve Nakken, Eivind Hovig, Lone Sunde, Matthias Kloor, Magnus v Knebel Doeberitz, Aysel Ahadova, Noralane Lindor, Verena Steinke-Lange, Elke Holinski-Feder, Jukka-Pekka Mecklin, Pål Møller

Published in: Hereditary Cancer in Clinical Practice | Issue 1/2019

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Abstract

Background

We previously reported that in pathogenic mismatch repair (path_MMR) variant carriers, the incidence of colorectal cancer (CRC) was not reduced when colonoscopy was undertaken more frequently than once every 3 years, and that CRC stage and interval since last colonoscopy were not correlated.

Methods

The Prospective Lynch Syndrome Database (PLSD) that records outcomes of surveillance was examined to determine survival after colon cancer in relation to the time since previous colonoscopy and pathological stage. Only path_MMR variants scored by the InSiGHT variant database as class 4 or 5 (clinically actionable) were included in the analysis.

Results

Ninety-nine path_MMR carriers had no cancer prior to or at first colonoscopy, but subsequently developed colon cancer. Among these, 96 were 65 years of age or younger at diagnosis, and included 77 path_MLH1, 17 path_MSH2, and 2 path_MSH6 carriers. The number of cancers detected within < 1.5, 1.5–2.5, 2.5–3.5 and at > 3.5 years after previous colonoscopy were 9, 43, 31 and 13, respectively. Of these, 2, 8, 4 and 3 were stage III, respectively, and only one stage IV (interval 2.5–3.5 years) disease. Ten-year crude survival after colon cancer were 93, 94 and 82% for stage I, II and III disease, respectively (p < 0.001). Ten-year crude survival when the last colonoscopy had been < 1.5, 1.5–2.5, 2.5–3.5 or > 3.5 years before diagnosis, was 89, 90, 90 and 92%, respectively (p = 0.91).

Conclusions

In path_MLH1 and path_MSH2 carriers, more advanced colon cancer stage was associated with poorer survival, whereas time since previous colonoscopy was not. Although the numbers are limited, together with our previously reported findings, these results may be in conflict with the view that follow-up of path_MMR variant carriers with colonoscopy intervals of less than 3 years provides significant benefit.
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Metadata
Title
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report
Authors
Mev Dominguez-Valentin
Toni T. Seppälä
Julian R. Sampson
Finlay Macrae
Ingrid Winship
D. Gareth Evans
Rodney J. Scott
John Burn
Gabriela Möslein
Inge Bernstein
Kirsi Pylvänäinen
Laura Renkonen-Sinisalo
Anna Lepistö
Annika Lindblom
John-Paul Plazzer
Douglas Tjandra
Huw Thomas
Kate Green
Fiona Lalloo
Emma J. Crosbie
James Hill
Gabriel Capella
Marta Pineda
Matilde Navarro
Joan Brunet Vidal
Karina Rønlund
Randi Thyregaard Nielsen
Mette Yilmaz
Louise Laurberg Elvang
Lior Katz
Maartje Nielsen
Sanne W. ten Broeke
Sigve Nakken
Eivind Hovig
Lone Sunde
Matthias Kloor
Magnus v Knebel Doeberitz
Aysel Ahadova
Noralane Lindor
Verena Steinke-Lange
Elke Holinski-Feder
Jukka-Pekka Mecklin
Pål Møller
Publication date
01-12-2019
Publisher
BioMed Central
Published in
Hereditary Cancer in Clinical Practice / Issue 1/2019
Electronic ISSN: 1897-4287
DOI
https://doi.org/10.1186/s13053-019-0127-3

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