Cancer genes mutation profiling in calcifying epithelial odontogenic tumour

J Clin Pathol. 2018 Mar;71(3):279-283. doi: 10.1136/jclinpath-2017-204813. Epub 2017 Nov 10.

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.

Keywords: calcifying epithelial odontogenic tumor; genetics; molecular pathology; neoplasms; oral pathology.

MeSH terms

  • Adolescent
  • Adult
  • Cyclin-Dependent Kinase Inhibitor p16
  • Cyclin-Dependent Kinase Inhibitor p18
  • Female
  • Gene Frequency
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Janus Kinase 3 / genetics
  • Male
  • Membrane Proteins / genetics
  • Microdissection
  • Middle Aged
  • Mutation
  • Mutation, Missense
  • Odontogenic Tumors / genetics*
  • Odontogenic Tumors / pathology
  • Oncogenes / genetics*
  • PTEN Phosphohydrolase / genetics
  • Proto-Oncogene Proteins c-met / genetics
  • Sequence Analysis, DNA
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology
  • Tumor Suppressor Proteins / genetics*

Substances

  • CDKN2A protein, human
  • Cyclin-Dependent Kinase Inhibitor p16
  • Cyclin-Dependent Kinase Inhibitor p18
  • Membrane Proteins
  • Tumor Suppressor Proteins
  • MET protein, human
  • Proto-Oncogene Proteins c-met
  • JAK3 protein, human
  • Janus Kinase 3
  • TPTE protein, human
  • PTEN Phosphohydrolase

Supplementary concepts

  • Calcifying Epithelial Odontogenic Tumor