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 5 0.034], desmoid diagnosis at an earlier age (mean 36 vs. 42 years, p 5 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.Desmoid-type fibromatoses, previously known as aggressive fibromatoses, musculoaponeurotic fibromatoses or desmoid tumors, is a rare neoplastic disorder with an unpredictable disease course. Histologically, these neoplasms are benign fibroblastic tumors consisting of spindle cells and fibroblasts with a low mitotic rate. Differentiation from other soft tissue tumors, for example low grade fibromyxoid sarcomas, can be difficult. 1 Clinically, desmoid-type fibromatoses either presents as a solid tumor, located in muscles, or as diffuse fibromatoses in the mesenterium. Despite the histological bland morphology, desmoid-type fibromatoses show locally aggressive features such as infiltration in surrounding tissue, and a tendency to recur after resection. Desmoids lack metastatic potential. The etiology of desmoid-type fibromatoses is thought to be multifactorial. 1 Supposed risk factors are exposure to estrogens, trauma (associated with surgery or pregnancy), and a positive family history of desmoid-type fibromatoses. [2][3][4][5] Desmoid-type fibromatoses are rare in the general population with estimated incidence rates of two to four per million individuals per year. 6 However, in patients with familial adenomatous polyposis (FAP), desmoid-type fibromatoses are reported in 10-30%...

Family History, Surgery, and APC Mutation Are Risk Factors for Desmoid Tumors in Familial Adenomatous Polyposis: An International Cohort Study

“…2,5,[7][8][9][10] In a recent study, we showed that sporadic desmoid tumors were more common in female patients than in male patients, whereas FAP related desmoids were evenly distributed over both sexes. 13 Our current results confirm equal gender distribution for desmoids associated with FAP. We also investigated whether previous colorectal cancer was associated with desmoid development, but could not confirm such an association.…”

Gene Expression Profiling of Desmoid Tumors by cDNA Microarrays and Correlation with Progression-Free Survival

“…Biologically, alterations of the APC (mutation or loss of the entire locus) and CTNNB1 mutation might constitute an initial mutually exclusive alteration (3,4). Moreover, Salas and colleagues described three recurrent and relevant alterations of chromosomes 8, 20, and 6 by array comparative genomic hybridization (CGH) array.…”

Desmoid-type fibromatosis

“…2 It is mostly sporadic, however, there is an association with familial adenomatous polyposis (FAP) in approximately 7.5% of patients, conferring an 800-fold risk when compared to the general population. 3 DF affects a wide age range, but is most common between 10 and 40 years of age. In the paediatric population, there is an equal sex ratio, with tumours being predominantly extra-abdominal.…”