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.
- calcifying epithelial odontogenic tumor
- molecular pathology
- oral pathology
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Handling editor Runjan Chetty.
Contributors All the authors have made a significant contribution to this manuscript, have seen, reviewed and approved the final manuscript and have agreed to its submission. Study design: SFS, MGD, RSG and CCG. Data acquisition: SFS, JAF, TSFP and JNS. Next-generation sequencing workflow: SFS, JAF, TSFP and RGM. Sanger sequencing: SFS and MGD. Data analysis and interpretation: SFS, MGD, RGM and CCG. Manuscript preparation: SFS, MGD, RGM, JNS, CCG and RSG.
Funding This work was supported by grants from the National Council for Scientific and Technological Development (CNPq)/Brazil and the Coordination for the Improvement of Higher Education Personnel (CAPES)/Brazil. SFS, JNS, JAF, CCG, RSG and MGD are supported by CNPq. CCG (Proc. 88881.118879/2016A01), RSG (Proc. 88881.119257/2016A01) and MGD are research fellows at CAPES (Brazil).
Competing interests None declared.
Ethics approval Universidade Federal de Minas Gerais Ethics Committee (protocol CAAE 30405514.5.0000.5149).
Provenance and peer review Not commissioned; externally peer reviewed.
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