Next generation sequencing of oncogenes and tumor suppressor genes in odontogenic myxomas

Abstract

Background

Mutations previously considered drivers of malignant neoplasms also occur in benign tumors. From the biological perspective, the study of malignant and benign neoplasms is equally relevant. The study of rare tumors contributes to the understanding of the more common ones, as both could share the same hallmark genetic drivers. The identification of driver mutations in benign tumors is facilitated by the fact that they harbor quiet genomes. Pathogenic mutations have being described in benign epithelial odontogenic tumors, such as ameloblastomas and adenomatoid odontogenic tumors. However, the molecular pathogenesis of odontogenic myxoma (OM), a benign aggressive mesenchymal tumor, is still poorly characterized, precluding the development of personalized therapy. Aiming to find druggable genetic mutations, we investigated in OM, mutations in 50 genes commonly mutated in cancer.

Methods

We used targeted next generation sequencing to interrogate about 2,800 COSMIC mutations in OM.

Results

Missense single nucleotide variants were detected in KDR, TP53, PIK3CA, KIT, JAK3, however, these did not include pathogenic mutations.

Conclusion

Contrarily to other myxoid human neoplasms, these aggressive tumors do not harbor pathogenic mutations in genes commonly mutated in human cancers or if they do, these mutations probably occur in a low proportion of cases.

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