|Variant(s)||CTNNB1 codon(s) 41, 45 any|
CTNNB1 mutations are highly prevalent and were detected in 84 to 87% of all sporadic fibromatosis/desmoid tumors. Most CTNNB1 mutations in fibromatosis/desmoid tumors are predominantly missense mutations in codons 41 and 45 of exon 3. These mutations result in β-catenin stabilization, increased nuclear accumulation and activation of the Wnt signaling pathway. Specific CTNNB1 mutations have been reported to predict recurrence in some cases of extra-abdominal and abdominal aggressive fibromatosis. A S45F mutation increased the risk of recurrence significantly.
Taeeun Kim et al. Prevalence of the CTNNB1 mutation genotype in surgically resected fibromatosis of the breast. Histopathology. Volume 60, Issue 2, pages 347–356, January 2012.
Sebastian Huss et al .β-Catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis. Histopathology. Volume 62, Issue 2, pages 294–304, January 2013.
Danique Broekhoven et al. Prognostic Value of CTNNB1 Gene Mutation in Primary Sporadic Aggressive Fibromatosis. Annals of Surgical Oncology. May 2015, Volume 22, Issue 5, pp 1464-1470.
Sophie Le Guellec et al. CTNNB1 mutation analysis is a useful tool for the diagnosis of desmoid tumors: a study of 260 desmoid tumors and 191 potential morphologic mimics. Modern Pathology (2012) 25, 1551–1558; doi:10.1038/modpathol.2012.115; published online 6 July 2012.
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