RT Journal Article
SR Electronic
T1 Cancer genes mutation profiling in calcifying epithelial odontogenic tumour
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP jclinpath-2017-204813
DO 10.1136/jclinpath-2017-204813
A1 Sílvia Ferreira de Sousa
A1 Marina Gonçalves Diniz
A1 Josiane Alves França
A1 Thaís dos Santos Fontes Pereira
A1 Rennan Garcias Moreira
A1 Jean Nunes dos Santos
A1 Ricardo Santiago Gomez
A1 Carolina Cavalieri Gomes
YR 2017
UL http://jcp.bmj.com/content/early/2017/11/09/jclinpath-2017-204813.abstract
AB 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.