Jean Nunes Santos1, Ernesto Santos Sousa Neto1, Josiane Alves França2, Marina Gonçalves Diniz3, Rennan Garcias Moreira4, Wagner Henriques Castro3, Ricardo Santiago Gomez3, Silvia Ferreira de Sousa5, Carolina Cavalieri Gomes2. 1. Department of Oral Surgery and Pathology, Universidade Federal da Bahia (UFBA), Salvador, Brazil. 2. Department of Pathology, Biological Sciences Institute (ICB), Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil. 3. Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil. 4. Multiuser Laboratories Center, Biological Sciences Institute (ICB), Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil. 5. Department of Dentistry, School of Dentistry, Universidade Federal de Sergipe (UFS), Aracaju, Brazil.
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 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.
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 humancancers or if they do, these mutations probably occur in a low proportion of cases.
Authors: Martin Kauke; Ali-Farid Safi; Matthias Kreppel; Andrea Grandoch; Hans-Joachim Nickenig; Joachim E Zöller; Timo Dreiseidler Journal: Dentomaxillofac Radiol Date: 2017-11-06 Impact factor: 2.419