A wait-and-see policy is an effective front-line management for patients with primary or recurrent extra-abdominal desmoid tumor. These tumors tend to stabilize spontaneously, on average after one year of evolution, and the cumulative probability of the failure of a wait-and-see policy is approximately 10%.
Five to 10% of desmoid-type fibromatosis (DF) arise in the context of familial adenomatous polyposis (FAP). The beta-catenin gene (CTNNB1) exon 3 mutations are found in 90% of DF (except those associated with FAP) in two codonscodon 41 (p.T41A) and codon 45 (p.S45F and p.S45P) which are serine and threonine phosphorylation sites required for beta-catenin degradation. Mutations p.S45F are associated with a higher risk of recurrence. Among 64 patients with DF and documented CTNNB1 mutational status treated with oral weekly vinorelbine for 6 months, p.S45F or p.S45P mutations were associated with longer time to treatment failure compared to p.T41A or wild type tumors (HR : 2.78, 95%CI: 1.23-6.27), p = 0.04. The functional impact of codons 41 and 45 mutations is certainly different, since the phosphorylation of amino acid 45 targeted by casein kinase-1 serves as a priming phosphorylation for GSK-3β targeting the amino acid 41. Research.
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