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3,590 results
  • A case report of desmoid tumour-a forgotten aspect of FAP? [Journal Article]
  • IJInt J Surg Case Rep 2016 Dec 01; 30:122-125
  • Xuereb S, Xuereb R, … Magri C
  • CONCLUSIONS: FAP is an autosomal dominant condition caused by a germline mutation in the adenomatous polyposis coli (APC) gene. Gardner's syndrome is also caused by a mutation in the APC gene, and is now considered a different phenotypic presentation of FAP. Desmoid tumours are initially kept under observation while their size remains stable. Treatment options for enlarging desmoids tumours include surgery (first-line), radiotherapy, and systemic therapy with non-cytotoxic and cytotoxic therapy.FAP patients should be examined regularly post-panprocotocolectomy, since desmoid tumours may arise. The presence of epidermal cysts in this FAP patient suggests a diagnosis of Gardner's syndrome.
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