RT Journal Article
SR Electronic
T1 Desmoid Tumors in Familial Adenomatous Polyposis
JF Anticancer Research
JO Anticancer Res
FD International Institute of Anticancer Research
SP 3357
OP 3366
VO 37
IS 7
A1 MARIA LAURA DE MARCHIS
A1 FRANCESCO TONELLI
A1 DAVIDE QUARESMINI
A1 DOMENICA LOVERO
A1 DAVID DELLA-MORTE
A1 FRANCO SILVESTRIS
A1 FIORELLA GUADAGNI
A1 RAFFAELE PALMIROTTA
YR 2017
UL http://ar.iiarjournals.org/content/37/7/3357.abstract
AB 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 life-threatening 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 β-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.