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Title: Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database
Author: Seppälä, Toni T.
Pylvänäinen, Kirsi
Evans, D. Gareth
Järvinen, Heikki
Renkonen-Sinisalo, Laura
Bernstein, Inge
Holinski-Feder, Elke
Sala, Paola
Lindblom, Annika
Macrae, Finlay
Blanco, Inlay
Sijmons, Rolf
Jeffries, Jacqueline
Vasen, Hans
Burn, John
Nakken, Sigve
Hovig, Eivind
Rødland, Einar Andreas
Tharmaratnam, Kukatharmini
De Vos Tot Nederveen Cappel, Wouter H.
Hill, James
Wijnen, Juul
Jenkins, Mark A.
Genuardi, Maurizio
Green, Kate
Lalloo, Fiona
Sunde, Lone
Mints, Miriam
Bertario, Lucio
Pineda Riu, Marta
Navarro, Matilde
Morak, Monika
Frayling, Ian M.
Plazzer, John-Paul
Sampson, Julian R.
Capellá, G. (Gabriel)
Möslein, Gabriela
Mecklin, Jukka-Pekka
Møller, Pål
Mallorca Group
Keywords: Càncer colorectal
Colorectal cancer
Issue Date: 10-Oct-2017
Publisher: BioMed Central
Abstract: Background: we have previously reported a high incidence of colorectal cancer (CRC) in carriers of pathogenic MLH1 variants (path_MLH1) despite follow-up with colonoscopy including polypectomy. Methods: the cohort included Finnish carriers enrolled in 3-yearly colonoscopy (n = 505; 4625 observation years) and carriers from other countries enrolled in colonoscopy 2-yearly or more frequently (n = 439; 3299 observation years). We examined whether the longer interval between colonoscopies in Finland could explain the high incidence of CRC and whether disease expression correlated with differences in population CRC incidence. Results: cumulative CRC incidences in carriers of path_MLH1 at 70-years of age were 41% for males and 36% for females in the Finnish series and 58% and 55% in the non-Finnish series, respectively (p > 0.05). Mean time from last colonoscopy to CRC was 32.7 months in the Finnish compared to 31.0 months in the non-Finnish (p > 0.05) and was therefore unaffected by the recommended colonoscopy interval. Differences in population incidence of CRC could not explain the lower point estimates for CRC in the Finnish series. Ten-year overall survival after CRC was similar for the Finnish and non-Finnish series (88% and 91%, respectively; p > 0.05). Conclusions: the hypothesis that the high incidence of CRC in path_MLH1 carriers was caused by a higher incidence in the Finnish series was not valid. We discuss whether the results were influenced by methodological shortcomings in our study or whether the assumption that a shorter interval between colonoscopies leads to a lower CRC incidence may be wrong. This second possibility is intriguing, because it suggests the dogma that CRC in path_MLH1 carriers develops from polyps that can be detected at colonoscopy and removed to prevent CRC may be erroneous. In view of the excellent 10-year overall survival in the Finnish and non-Finnish series we remain strong advocates of current surveillance practices for those with LS pending studies that will inform new recommendations on the best surveillance interval.
Note: Reproducció del document publicat a:
It is part of: Hereditary Cancer in Clinical Practice , 2017, vol. 15, num. 18, p. s13053
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ISSN: 1731-2302
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Articles publicats en revistes (Ciències Clíniques)

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