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Title: Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor)
Authors: Tejpar, Sabine ×
Nollet, F
Li, C
Wunder, J S
Michils, G
Dal Cin, Paola
Van Cutsem, Eric
Bapat, B
van Roy, F
Cassiman, Jean-Jacques
Alman, B A #
Issue Date: Nov-1999
Publisher: Scientific & Medical Division, Macmillan Press
Series Title: Oncogene vol:18 issue:47 pages:6615-6620
Abstract: Aggressive fibromatosis (also called desmoid tumor) occurs as a sporadic lesion or as part of Familial Adenomatous Polyposis, which is caused by germ line mutations in the Adenomatous polyposis Coli (APC) gene. APC is involved in the regulation of the cellular level of beta-catenin, which is a mediator in Wnt signaling. Mutational analysis of the beta-catenin and APC genes was performed in 42 sporadic aggressive fibromatoses. Nine tumors had mutations in APC, and 22 had a point mutation in beta-catenin at either codon 45 or codon 41 (producing a stabilized beta-catenin protein product). Immunohistochemistry showed an elevated beta-catenin protein level in all tumors, regardless of mutational status. Beta-catenin localized to the nucleus, and was not tyrosine phosphorylated in the six tumors in which this was tested. The demonstration of mutations in two mediators in the Wnt-APC-beta-catenin pathway implicates beta-catenin stabilization as the key factor in the pathogenesis of aggressive fibromatosis. This is the first demonstration of somatic beta-catenin mutations in a locally invasive, but non metastatic lesion composed of spindle cells, illustrating the importance of beta-catenin stabilization in a variety of cell types and neoplastic processes. Moreover, this tumor has one of the highest reported frequencies of beta-catenin mutations of any tumor type.
URI: 
ISSN: 0950-9232
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Human Mutations and Polymorphisms Section (-)
Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
Translational Research in GastroIntestinal Disorders
Forensic Biomedical Sciences
Molecular Digestive Oncology (+)
Clinical Digestive Oncology (+)
× corresponding author
# (joint) last author

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