Desmoid tumours in familial adenomatous polyposis.

Abstract

Desmoids are rare, benign fibromatous lesions, which can arise in patients with familial adenomatous polyposis (FAP), a disorder caused by germline adenomatous polyposis coli (APC) gene mutation. This study investigated the risk of desmoids in FAP, the relation between specific APC gene mutations and desmoid formation, and the clinical characteristics of FAP patients with desmoids. Eighty three of 825 FAP patients (10%) from 49 of 161 kindreds (30%) had desmoids. The absolute risk of desmoids in FAP patients was 2-56/1000 person years; comparative risk was 852 times the general population. APC gene mutations were similar in families with and without desmoids. The female/male ratio was 1*4 (p=NS). Previous abdominal surgery was noted in 68% of patients with abdominal desmoids (55% developed within five years postoperatively). Desmoid risk in FAP family members of a desmoid patient was 25% in first degree relatives v 8% in third degree relatives. Desmoids are a comparatively common complication of FAP associated with surgical trauma and familial aggregation. Desmoid development was not linked to specific APC gene mutations and was not found predominantly in women. Studies of chemopreventive therapy, given within five years after abdominal surgery, should be considered in FAP patients with a family history of desmoid disease. (Gut 1994; 35: 377-381) Desmoids are benign fibromatous lesions that arise most often in the abdominal wall and mesentery but also occasionally in the extremities and trunk. Desmoids occur rarely, constituting less than 0-1% of all tumours'2 with an incidence of 2-4 cases/million/year,23 and develop mainly in women. Patients with familial adenomatous polyposis (FAP)

Response of extraabdominal desmoid tumors to therapy with imatinib mesylate

“…The observation of clonal cytogenetics in both FAP-associated and sporadic desmoid tumor supports a genetic predisposition for the development of this disease. [2][3][4] Prior trauma or surgery, 8 -13 as well as endogenous or exogenous estrogen exposure, also appear to play a contributory role. 7,8,14,15 Although the overwhelming majority of FAP-associated diagnoses occur in the abdomen or abdominal wall, approximately only 50% of the reported sporadic cases occur in this anatomic location.…”

Superficial Fibromatoses are Genetically Distinct from Deep Fibromatoses

“…It is of interest that superficial fibromatoses are not known to be increased in FAP, even in highly specialized variant disease featuring specific mutations associated with hereditary desmoid tumors (9,14,49). It has been estimated that FAP patients in general have an 852-fold increased risk of developing desmoids, typically intraabdominal lesions (64). However, Couture et al have recently presented a unique FrenchCanadian kindred harboring a germline mutation of Codons 2643 to 2644 of the APC gene (49).…”

Surgical treatment of familial adenomatous polyposis: ileoretal anastomosis or restorative proctolectomy?

“…Today it is well known that this risk also depends on clinical factors such as age and rectal length, as well as pathological factors (presence of villous adenomas, displasia, number, size and shape of polyps) and molecular factors (mutation locus) (18,24) .…”