WebJun 1, 2024 · Objective: This meta-analysis (PROSPERO CRD42024100653) uses individual patient data (IPD) to assess the association between recurrence and CTNNB1 mutation status in surgically treated adult desmoid-type fibromatosis (DTF) patients. Summary of background data: The majority of sporadic DTF tumors harbor a CTNNB1 … WebJun 3, 2024 · Recent studies have indicated that mutations in CTNNB1 gene encoding for β-catenin protein lead to aberrant activation of the Wnt/ β-catenin pathway. ... D32V/G, S33C, H36Q, S37C, G38V/S/R, A39V, T41P, T42A, P44R and S45P. The majority of mutations was observed in codons 32 (n: 3), 38 (n: 3) and 45 (n: 3), in which serine was the most ...
VCV000017588.2 - ClinVar - NCBI
WebApr 11, 2024 · Desmoid-type fibromatosis in splenic hilum with rupture of lienal artery aneurism in a 17-year-old male WebAffected Exon Number. 2. Gene. CTNNB1. SIFT Prediction [ 3 ] Deleterious. CTNNB1 S45C is present in 0.03% of AACR GENIE cases, with endometrial endometrioid … popular red one piece plunge swimsuit
Clinicopathological features of 70 desmoid-type fibromatoses ... - PubMed
WebJan 1, 2024 · Analysis of the 2010 pericardial sample revealed the presence of a mutation in CTNNB1 (S45P). The allelic ratio of this mutation was 13.8%; in keeping with a somatic heterozygous mutation. Re-analysis of the 2012 pleural fluid confirmed the CTNNB1 S45P mutation (allelic frequency 7.22%) as well as an EGFR T790M mutation (allelic … WebAll patients with CTNNB1 -p.S45-mutated NMC-DTF developed local progression after wide local excision or active surveillance, including one distal metachronous NMC-DTF. No … WebTo our knowledge, concomitant CTNNB1 mutations are extremely rare in ALK-rearranged NSCLC. In a study of Finnish NSCLC patients with ALK gene fusion and concomitant driver gene mutations, one patient was reported to have CTNNB1 p.S45P, as well as a mutation in MET; however, the clinical course and treatment information were not available. 6 shark rotator parts manual