Abstract
Desmoid disease is a feature of familial adenomatous polyposis, a dominantly inherited syndrome of cancer predisposition due to germline mutations in the tumor suppressor gene APC. About 30% of patients with familial adenomatous polyposis develop desmoid disease, especially women, those with a family history of desmoids, those with the extracolonic manifestations of Gardner’s syndrome, and those with a mutation 3′ of codon 1440. Most desmoids occur in the abdominal wall or inside the abdomen, usually developing after prophylactic colectomy. They may grow rapidly, causing pain, and bowel or ureteric obstruction. No treatment is predictably effective but options include nonsteroidal antiinflammatory drugs (NSAIDs), antiestrogen drugs, chemotherapy, and excision. While desmoid disease can be lethal, patients usually live in equilibrium with their disease.
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Church, J. (2012). Desmoid Disease in Familial Adenomatous Polyposis. In: Litchman, C. (eds) Desmoid Tumors. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-1685-8_10
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DOI: https://doi.org/10.1007/978-94-007-1685-8_10
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