title: A nation-wide study comparing sporadic and familial adenomatous polyposis-related desmoid-type fibromatoses.
abstract: Desmoid-type fibromatoses are neoplasms of fibroblastic origin, occurring sporadically or associated with familial adenomatous polyposis (FAP) coli. By comparing sporadic and FAP-associated desmoid-type fibromatoses, we tried to identify clinical characteristics, which may indicate FAP. Histopathology data of all Dutch patients with desmoid-type fibromatoses diagnosed between 1999 and 2009 were retrieved from PALGA, the nation-wide network and registry of histopathology in the Netherlands. For calculation of incidence rates, person-years from the general matched population were used. Based on polyp counts in pathological records, the cohort was divided into a FAP group and a non-FAP group. Patient- and tumor characteristics were compared between the two groups. A total number of 519 patients older than 10 years with a confirmed diagnosis of desmoid-type fibromatoses were included. Thirty-nine (7.5%) desmoid patients were documented of having FAP. The incidences of sporadic and FAP-related desmoid-type fibromatoses were 3.42 and 2,784 per million person-years, respectively. The majority of FAP patients developed desmoid-type fibromatoses after the diagnosis of FAP. Having FAP was associated with male gender [odds ratio (OR) 2.0, p = 0.034], desmoid diagnosis at an earlier age (mean 36 vs. 42 years, p = 0.031), and desmoid localization intra-abdominally (OR 18.9, p ≤ 0.001) or in the abdominal wall (OR 4.8, p ≤ 0.001), compared to extra-abdominal desmoid localization. In conclusion, patients with desmoid-type fibromatoses are at risk of underlying FAP. Especially cases with desmoid localization intra-abdominal or in the abdominal wall, and all patients younger than 60 years, have a substantial increased risk and should be referred for colonoscopy.
authors.affiliation: The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, The Netherlands.
authors.forename: Marry H
authors.initials: MH
authors.lastname: Nieuwenhuis
authors.forename: Mariel
authors.initials: M
authors.lastname: Casparie
authors.forename: Lisbeth M H
authors.initials: LM
authors.lastname: Mathus-Vliegen
authors.forename: Olaf M
authors.initials: OM
authors.lastname: Dekkers
authors.forename: Pancras C W
authors.initials: PC
authors.lastname: Hogendoorn
authors.forename: Hans F A
authors.initials: HF
authors.lastname: Vasen
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000150:complications / Q000453:epidemiology* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D005260:Female; D005350:Fibroma / Q000150:complications / Q000453:epidemiology* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009426:Netherlands / Q000453:epidemiology; D055815:Young Adult