Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database

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...

Descripción completa

Detalles Bibliográficos
Autores: 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 H.; 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
Tipo de documento: Artículo
Estado:Published version
Fecha de publicación:2017
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/133001
Acceso en línea:https://hdl.handle.net/2445/133001
Nivel de acceso:Acceso abierto
Palabra clave:Càncer colorectal
Colonoscòpia
Finlàndia
Colorectal cancer
Colonoscopy
Finland
_version_ 1878742152382513152
author Seppälä, Toni T.
author2 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 H.
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
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author_browse Bernstein, Inge
Bertario, Lucio
Blanco, Inlay
Burn, John
Capellá, G. (Gabriel)
De Vos Tot Nederveen Cappel, Wouter H.
Evans, D. Gareth
Frayling, Ian M.
Genuardi, Maurizio
Green, Kate
Hill, James
Holinski-Feder, Elke
Hovig, Eivind
Jeffries, Jacqueline
Jenkins, Mark A.
Järvinen, Heikki
Lalloo, Fiona
Lindblom, Annika
Macrae, Finlay
Mallorca Group
Mecklin, Jukka-Pekka
Mints, Miriam
Morak, Monika
Möslein, Gabriela
Møller, Pål
Nakken, Sigve
Navarro, Matilde
Pineda Riu, Marta
Plazzer, John-Paul
Pylvänäinen, Kirsi
Renkonen Sinisalo, Laura
Rødland, Einar Andreas
Sala, Paola
Sampson, Julian R.
Seppälä, Toni T.
Sijmons, Rolf H.
Sunde, Lone
Tharmaratnam, Kukatharmini
Vasen, Hans
Wijnen, Juul
author_facet 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 H.
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
author_role author
collection Dipòsit Digital de la UB
description 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.
eu_rights_str_mv openAccess
format article
id ES_f0fd8aa8de0410f45826bcc700e8a636
institution Universidad de Barcelona
instname_str Universidad de Barcelona
network_acronym_str ES
network_name_str España
oai_identifier_str oai:diposit.ub.edu:2445/133001
publishDate 2017
publishDateSort 2017
publisher BioMed Central
publisherStr BioMed Central
reponame_str Dipòsit Digital de la UB
spelling Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database 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 H. 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 Càncer colorectal Colonoscòpia Finlàndia Colorectal cancer Colonoscopy Finland 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. BioMed Central https://hdl.handle.net/2445/133001
spellingShingle Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database
Seppälä, Toni T.
Càncer colorectal
Colonoscòpia
Finlàndia
Colorectal cancer
Colonoscopy
Finland
status_str publishedVersion
title Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database
title_full Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database
title_fullStr Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database
title_full_unstemmed Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database
title_short Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database
title_sort Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a prospective lynch syndrome database
topic Càncer colorectal
Colonoscòpia
Finlàndia
Colorectal cancer
Colonoscopy
Finland
topic_facet Càncer colorectal
Colonoscòpia
Finlàndia
Colorectal cancer
Colonoscopy
Finland
url https://hdl.handle.net/2445/133001