Desmoid tumors in familial adenomatous polyposis

Maria Laura De MARcHis, Francesco ToNELLi, Davide QUAREsMiNi, Domenica LoVERo, David Della Morte, Franco SiLVEsTRis, Fiorella GUADAGNi, Raffaele Palmirotta

Research output: Contribution to journalReview article

15 Scopus citations

Abstract

Familial adenomatous polyposis (FAP) is a cancer syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene. It is characterized by the presence of hundreds of colonic polyps, which have a high tendency to undergo malignant transformation. Among associated lesions in FAP, desmoid tumors represent a common possible lifethreatening condition that requires special attention. They are rare tumors occurring with a particularly high incidence in FAP, especially after surgery. In agreement with Knudson's 'two-hit' theory, the inactivation of the residual APC gene in FAP is a critical step in the development of both colorectal cancer and desmoids. Several lines of evidence show that germline mutations affect the functional domains of the APC gene that are responsible for interactions of the transcript with catenin, whereas somatic second mutations involve the downstream region of the gene. Hence, an understanding of the molecular pathways underlying desmoid progression in FAP could be important for research and a valid resource for the early prevention and tailored treatment of this disease. In this review, we provide an updated insight into desmoids in FAP syndrome, from molecular pathogenesis to the main issues in management, with special attention given to genetic and molecular features of these tumors.

Original languageEnglish (US)
Pages (from-to)3357-3366
Number of pages10
JournalAnticancer Research
Volume37
Issue number7
DOIs
StatePublished - Jul 1 2017
Externally publishedYes

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Keywords

  • APC gene
  • Catenin
  • Desmoid
  • Familial adenomatous polyposis
  • Review

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

Cite this

De MARcHis, M. L., ToNELLi, F., QUAREsMiNi, D., LoVERo, D., Della Morte, D., SiLVEsTRis, F., GUADAGNi, F., & Palmirotta, R. (2017). Desmoid tumors in familial adenomatous polyposis. Anticancer Research, 37(7), 3357-3366. https://doi.org/10.21873/anticanres.11702