In this case report, our patient presented with right lower quadrant abdominal pain of 6 months’ duration, and work-up eventually revealed a desmoid tumor. These tumors typically appear as well-differentiated growths of fibrocollagenous tissue that are locally infiltrative and aggressive. Although they do not have malignant potential or the ability to metastasize, their aggressive nature often causes significant morbidity and mortality due to infiltra­tion of vital organs and structures. Given their tendency to recur after resection or medical management, desmoid management can be quite challenging for clinicians.


The cell of origin for desmoid tumors is the myofibro- blast, which explains their typical occurrence in musculo- aponeurotic tissue. The currently understood mechanism for development of desmoid tumors involves mutations in the adenomatous polyposis coli (APC) gene on chro­mosome 5q. The APC gene codes for the beta-catenin binding/degradation protein (APC protein). Beta-catenin is responsible for activating transcription factor Tcf-4, an important protein involved in fibroblast proliferation. The APC protein prevents accumulation of beta-catenin by mediating its phosphorylation and degradation. Thus, mutations in the APC gene result in beta-catenin over- expression and resultant dysregulation of mesenchymal and fibroblast cell proliferation and invasiveness. This explains the high rate of desmoid occurrence in patients with familial adenomatous polyposis (FAP) or Gardner syndrome. These disorders, known to cause early and aggressive development of colorectal adenomatous polyps and cancer as well as soft- and hard-tissue neoplasms, are secondary to point mutations in the APC gene. Up to 20% of patients with FAP may be afflicted by desmoid tumors. Similarly, patients who have had previous surgery or antecedent trauma are at increased risk for desmoid development, as beta-catenin levels are elevated during the proliferative phase of wound healing. Alternatively, a link has been postulated between desmoid development and high estrogen states such as pregnancy, as estrogen has been shown to promote fibroblast proliferation.
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Desmoid tumors are extremely rare, causing 0.03% of all neoplasms and less than 3% of all soft-tissue tumors. They typically develop in young and middle-aged adults (10—60 years of age) but can be occasionally found in young children as well as the elderly. There is a slight female predominance with this disease, but no racial or ethnic trends have been observed.

Clinical Presentation

Given the extensive distribution of musculoskeletal and stromal tissues, desmoids can arise almost anywhere in the body. However, there are several common sites of devel­opment: the trunk and extremities (usually the shoulder or pelvic girdle), the abdominal wall (typically arising from the rectus muscle), and inside the abdomen (from the bowel or mesentery). Depending upon the location, most desmoids present as slow-growing, painless (or min­imally painful) masses. Intra-abdominal desmoids may cause bowel obstruction or ischemia, whereas extremity desmoids may cause nerve entrapment or lymphatic obstruction. Given the slow-growing nature of intra- abdominal desmoids, pain associated with these tumors typically indicates significant visceral involvement. Due to a link with wound healing, sites of prior trauma or surgery are often involved. On examination, the typical finding consists of a firm, smooth, and mobile mass that is adherent to its surrounding structures. Usually, the overlying skin is not affected.
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