Cancer genes mutation profiling in calcifying epithelial odontogenic tumour.

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.

journal_name

J Clin Pathol

authors

de Sousa SF,Diniz MG,França JA,Fontes Pereira TDS,Moreira RG,Santos JND,Gomez RS,Gomes CC

doi

10.1136/jclinpath-2017-204813

subject

Has Abstract

pub_date

2018-03-01 00:00:00

pages

279-283

issue

3

eissn

0021-9746

issn

1472-4146

pii

jclinpath-2017-204813

journal_volume

71

pub_type

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