BACKGROUND: Small bowel cancer (SBC) is one of the tumours associated with Lynch syndrome (LS). To advise on screening for this tumour it is paramount to be informed about the lifetime risk. The aim of this study was to calculate the lifetime risk of SBC in LS and to identify possible risk factors. METHODS: Clinical and pathological data were collected on 1496 proven or putative carriers of a mismatch repair gene mutation from 189 families. Kaplan-Meier survival analysis was used to calculate the lifetime risk and to assess potential risk factors. RESULTS: 28 (1.9%) of the 1496 (putative) mutation carriers were identified with SBC. The median age at diagnosis was 52 years (range 23-69 years). The lifetime risk of developing SBC was 4.2%. There was no difference in risk between males and females (log rank: p = 0.2470), or between MLH1 and MSH2 mutation carriers (log rank: p = 0.2754). SBC was not observed in MSH6 mutation carriers (n = 203). The previous occurrence of colorectal cancer and a family history of SBC did not increase the risk significantly. CONCLUSIONS: Approximately, one out of 25 mutation carriers will develop SBC during life. No specific risk factors were identified. The risk appeared to be too low to advise screening by means of an invasive burdensome procedure like double balloon enteroscopy. However, screening by a non-invasive procedure (videocapsule endoscopy) might be considered if future studies will show its cost effectiveness. In patients with unexplained abdominal complaints and/or unexplained iron deficiency anaemia SBC should be considered.
BACKGROUND:Small bowel cancer (SBC) is one of the tumours associated with Lynch syndrome (LS). To advise on screening for this tumour it is paramount to be informed about the lifetime risk. The aim of this study was to calculate the lifetime risk of SBC in LS and to identify possible risk factors. METHODS: Clinical and pathological data were collected on 1496 proven or putative carriers of a mismatch repair gene mutation from 189 families. Kaplan-Meier survival analysis was used to calculate the lifetime risk and to assess potential risk factors. RESULTS: 28 (1.9%) of the 1496 (putative) mutation carriers were identified with SBC. The median age at diagnosis was 52 years (range 23-69 years). The lifetime risk of developing SBC was 4.2%. There was no difference in risk between males and females (log rank: p = 0.2470), or between MLH1 and MSH2 mutation carriers (log rank: p = 0.2754). SBC was not observed in MSH6 mutation carriers (n = 203). The previous occurrence of colorectal cancer and a family history of SBC did not increase the risk significantly. CONCLUSIONS: Approximately, one out of 25 mutation carriers will develop SBC during life. No specific risk factors were identified. The risk appeared to be too low to advise screening by means of an invasive burdensome procedure like double balloon enteroscopy. However, screening by a non-invasive procedure (videocapsule endoscopy) might be considered if future studies will show its cost effectiveness. In patients with unexplained abdominal complaints and/or unexplained iron deficiency anaemia SBC should be considered.
Authors: Timm Goecke; Karsten Schulmann; Christoph Engel; Elke Holinski-Feder; Constanze Pagenstecher; Hans K Schackert; Matthias Kloor; Erdmute Kunstmann; Holger Vogelsang; Gisela Keller; Wolfgang Dietmaier; Elisabeth Mangold; Nicolaus Friedrichs; Peter Propping; Stefan Krüger; Johannes Gebert; Wolff Schmiegel; Josef Rueschoff; Markus Loeffler; Gabriela Moeslein Journal: J Clin Oncol Date: 2006-08-14 Impact factor: 44.544
Authors: L Kaerlev; P S Teglbjaerg; S Sabroe; H A Kolstad; W Ahrens; M Eriksson; P Guénel; L Hardell; G Launoy; E Merler; F Merletti; A Stang; J Olsen Journal: Cancer Causes Control Date: 2000-10 Impact factor: 2.506
Authors: H F Vasen; A Stormorken; F H Menko; F M Nagengast; J H Kleibeuker; G Griffioen; B G Taal; P Moller; J T Wijnen Journal: J Clin Oncol Date: 2001-10-15 Impact factor: 44.544
Authors: H F Vasen; J T Wijnen; F H Menko; J H Kleibeuker; B G Taal; G Griffioen; F M Nagengast; E H Meijers-Heijboer; L Bertario; L Varesco; M L Bisgaard; J Mohr; R Fodde; P M Khan Journal: Gastroenterology Date: 1996-04 Impact factor: 22.682
Authors: Aung Ko Win; Noralane M Lindor; Joanne P Young; Finlay A Macrae; Graeme P Young; Elizabeth Williamson; Susan Parry; Jack Goldblatt; Lara Lipton; Ingrid Winship; Barbara Leggett; Katherine M Tucker; Graham G Giles; Daniel D Buchanan; Mark Clendenning; Christophe Rosty; Julie Arnold; A Joan Levine; Robert W Haile; Steven Gallinger; Loïc Le Marchand; Polly A Newcomb; John L Hopper; Mark A Jenkins Journal: J Natl Cancer Inst Date: 2012-08-28 Impact factor: 13.506
Authors: Patrice Watson; Hans F A Vasen; Jukka-Pekka Mecklin; Inge Bernstein; Markku Aarnio; Heikki J Järvinen; Torben Myrhøj; Lone Sunde; Juul T Wijnen; Henry T Lynch Journal: Int J Cancer Date: 2008-07-15 Impact factor: 7.396
Authors: Kevin J Monahan; Nicola Bradshaw; Sunil Dolwani; Bianca Desouza; Malcolm G Dunlop; James E East; Mohammad Ilyas; Asha Kaur; Fiona Lalloo; Andrew Latchford; Matthew D Rutter; Ian Tomlinson; Huw J W Thomas; James Hill Journal: Gut Date: 2019-11-28 Impact factor: 23.059
Authors: Hans F A Vasen; Ignacio Blanco; Katja Aktan-Collan; Jessica P Gopie; Angel Alonso; Stefan Aretz; Inge Bernstein; Lucio Bertario; John Burn; Gabriel Capella; Chrystelle Colas; Christoph Engel; Ian M Frayling; Maurizio Genuardi; Karl Heinimann; Frederik J Hes; Shirley V Hodgson; John A Karagiannis; Fiona Lalloo; Annika Lindblom; Jukka-Pekka Mecklin; Pal Møller; Torben Myrhoj; Fokko M Nagengast; Yann Parc; Maurizio Ponz de Leon; Laura Renkonen-Sinisalo; Julian R Sampson; Astrid Stormorken; Rolf H Sijmons; Sabine Tejpar; Huw J W Thomas; Nils Rahner; Juul T Wijnen; Heikki Juhani Järvinen; Gabriela Möslein Journal: Gut Date: 2013-02-13 Impact factor: 23.059
Authors: Hans F A Vasen; Mary E Velthuizen; Jan H Kleibeuker; Fred H Menko; Fokke M Nagengast; Annemieke Cats; Andrea E van der Meulen-de Jong; Martijn H Breuning; Anne J Roukema; Inge van Leeuwen-Cornelisse; Wouter H de Vos Tot Nederveen Cappel; Juul T Wijnen Journal: Fam Cancer Date: 2016-07 Impact factor: 2.375