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

作者：Santos Jean Nunes; Sousa Neto Ernesto Santos; Franca Josiane Alves; Diniz Marina Goncalves; Moreira Rennan Garcias; Castro Wagner Henriques; Gomez Ricardo Santiago; de Sousa Silvia Ferreira; Gomes Carolina Cavalieri^*

来源：Journal of Oral Pathology & Medicine, 2017, 46(10): 1036-1039.

DOI：10.1111/jop.12598

• benign neoplasms
• bone tumors
• genetics
• mutation
• odontogenic tumors

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 ectomesenchymal 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 over 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: 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.

• 出版日期2017-11