Cancer genes mutation profiling in calcifying epithelial odontogenic tumour. Issue 3 (10th November 2017)

• Record Type: Journal Article
• Authors: de Sousa, Sílvia Ferreira; Diniz, Marina Gonçalves; França, Josiane Alves; Fontes Pereira, Thaís dos Santos; Moreira, Rennan Garcias; Santos, Jean Nunes dos; Gomez, Ricardo Santiago; Gomes, Carolina Cavalieri
• Is Part Of: Journal of clinical pathology. Volume 71:Issue 3(2018)
• Page Start: 279
• Page End: 283
• Publication Date: 2017-11-10
• Subjects: calcifying epithelial odontogenic tumor -- neoplasms -- genetics -- molecular pathology -- oral pathology; Pathology -- Periodicals; Pathology, Molecular -- Periodicals; 616.0705
• DOI: 10.1136/jclinpath-2017-204813
• Languages: English
• ISSNs: 0021-9746

Abstract

Abstract : Aims: To identify calcifying epithelial odontogenic tumour (CEOT) mutations in oncogenes and tumour suppressor genes. Methods: A panel of 50 genes commonly mutated in cancer was sequenced in CEOT by next-generation sequencing. Sanger sequencing was used to cover the region of the frameshift deletion identified in one sample. Results: Missense single nucleotide variants (SNVs) with minor allele frequency (MAF) <1% were detected in PTEN, MET and JAK3 . A frameshift deletion in CDKN2A occurred in association with a missense mutation in the same gene region, suggesting a second hit in the inactivation of this gene. APC, KDR, KIT, PIK3CA and TP53 missense SNVs were identified; however, these are common SNVs, showing MAF >1%. Conclusion: CEOT harbours mutations in the tumour suppressor PTEN and CDKN2A and in the oncogenes JAK3 and MET . As these mutations occurred in only one case each, they are probably not driver mutations for these tumours.