GRCh38 · COSMIC v98


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The Wnt/?-catenin pathway is deregulated in cemento-ossifying fibromas.
Paper ID
Pereira TDSF, Diniz MG, França JA, Moreira RG, Menezes GHF, Sousa SF, Castro WH, Gomes CC and Gomez RS
Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Minas Gerais, Brazil.
Oral surgery, oral medicine, oral pathology and oral radiology, 2017
ISSN: 2212-4411
PMID: 29239811 (view at PubMed or Europe PMC)
Objective: The molecular pathogenesis of cemento ossifying fibroma (COF) is unclear. The purpose of this study was to investigate mutations in 50 oncogenes and tumor suppressor genes, including APC and CTNNB1, in which mutations in COF have been previously reported. In addition, we assessed the transcriptional levels of the Wnt/β-catenin pathway genes in COF.We used a quantitative polymerase chain reaction array to evaluate the transcriptional levels of 44 Wnt/β-catenin pathway genes in 6 COF samples, in comparison with 6 samples of healthy jaws. By using next-generation sequencing (NGS) in 7 COF samples, we investigated approximately 2800 mutations in 50 genes.Results: The expression assay revealed 12 differentially expressed Wnt/β-catenin pathway genes in COF, including the upregulation of CTNNB1, TCF7, NKD1, and WNT5 A, and downregulation of CTNNBIP1, FRZB, FZD6, RHOU, SFRP4, WNT10 A, WNT3 A, and WNT4, suggesting activation of the Wnt/β-catenin signaling pathway. NGS revealed 5 single nucleotide variants: TP53 (rs1042522), PIK3 CA (rs2230461), MET (rs33917957), KIT (rs3822214), and APC (rs33974176), but none of them was pathogenic.Conclusions: Although NGS detected no oncogenic mutation, deregulation of key Wnt/β-catenin signaling pathway genes appears to be relevant to the molecular pathogenesis of COF.
Paper Status