BACKGROUND & AIMS: MUTYH-associated polyposis (MAP) is characterized by a lifetime risk of colorectal cancer of up to 100%. However, no systematic evaluation of extracolonic manifestations has been reported. METHODS: A large cohort of MAP patients was recruited from a European multicenter study. Data were collected on 276 cases from 181 unrelated families. Information on extracolonic tumor spectrum and incidence were evaluated to determine cumulative lifetime risk, which was compared with that of the general population to obtain standardized incidence ratios (SIRs). RESULTS: Duodenal polyposis occurred in 17% of cases; the relative risk (SIR) of duodenal cancer was 129 (95% confidence interval [CI]: 16-466), whereas the lifetime risk was 4%. The incidence of extraintestinal malignancies among cases was almost twice that of the general population (SIR: 1.9; 95% CI: 1.4-2.5), with a lifetime risk of 38%. We observed a significant increase in the incidence of ovarian, bladder, and skin cancers (SIR: 5.7, 7.2, and 2.8, respectively) and a trend of increased risk of breast cancer among cases. The median ages of onset of these 4 malignancies ranged from 51 to 61 years. In contrast to familial adenomatous polyposis, no desmoid tumors were observed, but sebaceous gland tumors, characteristic of the Muir-Torre variant of Lynch syndrome, occurred in 5 patients. CONCLUSIONS: The relative risks for several extraintestinal malignancies increased in patients with MAP, but based on the spectrum of cancers (which overlaps with that of Lynch syndrome) and the relatively advanced age at onset, intensive surveillance measures other than frequent endoscopy are unlikely to be helpful to patients with MAP.
BACKGROUND & AIMS:MUTYH-associated polyposis (MAP) is characterized by a lifetime risk of colorectal cancer of up to 100%. However, no systematic evaluation of extracolonic manifestations has been reported. METHODS: A large cohort of MAP patients was recruited from a European multicenter study. Data were collected on 276 cases from 181 unrelated families. Information on extracolonic tumor spectrum and incidence were evaluated to determine cumulative lifetime risk, which was compared with that of the general population to obtain standardized incidence ratios (SIRs). RESULTS:Duodenal polyposis occurred in 17% of cases; the relative risk (SIR) of duodenal cancer was 129 (95% confidence interval [CI]: 16-466), whereas the lifetime risk was 4%. The incidence of extraintestinal malignancies among cases was almost twice that of the general population (SIR: 1.9; 95% CI: 1.4-2.5), with a lifetime risk of 38%. We observed a significant increase in the incidence of ovarian, bladder, and skin cancers (SIR: 5.7, 7.2, and 2.8, respectively) and a trend of increased risk of breast cancer among cases. The median ages of onset of these 4 malignancies ranged from 51 to 61 years. In contrast to familial adenomatous polyposis, no desmoid tumors were observed, but sebaceous gland tumors, characteristic of the Muir-Torre variant of Lynch syndrome, occurred in 5 patients. CONCLUSIONS: The relative risks for several extraintestinal malignancies increased in patients with MAP, but based on the spectrum of cancers (which overlaps with that of Lynch syndrome) and the relatively advanced age at onset, intensive surveillance measures other than frequent endoscopy are unlikely to be helpful to patients with MAP.
Authors: María Dolores Giráldez; Francesc Balaguer; Luis Bujanda; Miriam Cuatrecasas; Jenifer Muñoz; Virginia Alonso-Espinaco; Mikel Larzabal; Anna Petit; Victoria Gonzalo; Teresa Ocaña; Leticia Moreira; José María Enríquez-Navascués; C Richard Boland; Ajay Goel; Antoni Castells; Sergi Castellví-Bel Journal: Clin Cancer Res Date: 2010-10-05 Impact factor: 12.531
Authors: Aung Ko Win; Sean P Cleary; James G Dowty; John A Baron; Joanne P Young; Daniel D Buchanan; Melissa C Southey; Terrilea Burnett; Patrick S Parfrey; Roger C Green; Loïc Le Marchand; Polly A Newcomb; Robert W Haile; Noralane M Lindor; John L Hopper; Steven Gallinger; Mark A Jenkins Journal: Int J Cancer Date: 2011-04-08 Impact factor: 7.396
Authors: Sapna Syngal; Randall E Brand; James M Church; Francis M Giardiello; Heather L Hampel; Randall W Burt Journal: Am J Gastroenterol Date: 2015-02-03 Impact factor: 10.864
Authors: Erin G Sutcliffe; Amanda Bartenbaker Thompson; Amy R Stettner; Megan L Marshall; Maegan E Roberts; Lisa R Susswein; Ying Wang; Rachel T Klein; Kathleen S Hruska; Benjamin D Solomon Journal: Fam Cancer Date: 2019-04 Impact factor: 2.375