In:
Journal of Clinical Pathology, BMJ, Vol. 71, No. 3 ( 2018-03), p. 279-283
Kurzfassung:
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.
Materialart:
Online-Ressource
ISSN:
0021-9746
,
1472-4146
DOI:
10.1136/jclinpath-2017-204813
DOI:
10.1136/jclinpath-2017-204813.supp1
Sprache:
Englisch
Verlag:
BMJ
Publikationsdatum:
2018
ZDB Id:
2028928-5