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Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas
Published on: February 28, 2019
Molecular diagnostics in odontogenic tumors
Reinhard Buettner1, Sibel Elif Gültekin2
1Institute of Pathology, Medical Faculty, University of Cologne, Cologne, Germany. reinhard.buettner@uk-koeln.de.
Background:
Odontogenic tumors (OTs) are rare, with an estimated incidence rate of less than 0.5 cases per 100,000 per year. The causes of OTs remain unclear. Nonetheless, the majority of OTs seem to arise de novo, without an apparent causative factor. Although the etiopathogenesis of most OTs remains unclear, there have been some recent advances in understanding the genetic basis relating to specific histologies and clinical features. Molecular analyses performed by different techniques, including Sanger sequencing, next-generation sequencing, and allele-specific PCR, have uncovered mutations in genes related to the oncogenic MAPK/ERK signaling pathway. Genetic mutations in these pathway genes have been reported in epithelial and mixed OTs, in addition to odontogenic carcinomas and sarcomas. Notably, B‑RAF proto-oncogene serine/threonine kinase (BRAF) and KRAS proto-oncogene GTPase (KRAS) pathogenic mutations have been reported in a high proportion of ameloblastoma and ameloblastoma-related tumors and adenomatoid odontogenic tumors, respectively.
Objective:
To discuss how molecular profiling aids in diagnostic classification of odontogenic tumors.
Conclusion:
Molecular profiling of odontogenic tumors helps to identify patients for neoadjuvant therapies and reduces postoperative morbidity.
Insights
Molecular profiling of rare odontogenic tumors reveals genetic mutations, aiding diagnosis. This helps identify patients for targeted therapies and reduces complications.
Area of Science:
- Oral Pathology
- Oncology
- Molecular Genetics
Background:
- Odontogenic tumors (OTs) are rare neoplasms with unclear etiopathogenesis.
- Recent advances highlight the genetic basis of OTs, particularly mutations in the MAPK/ERK signaling pathway.
- Pathogenic mutations in BRAF and KRAS genes are frequently observed in specific OTs like ameloblastoma and adenomatoid odontogenic tumors.
Purpose of the Study:
- To elucidate the role of molecular profiling in the diagnostic classification of odontogenic tumors.
- To explore the diagnostic and therapeutic implications of genetic alterations in OTs.
Main Methods:
- Review of molecular analyses including Sanger sequencing, next-generation sequencing, and allele-specific PCR.
- Analysis of genetic mutations in genes within the MAPK/ERK signaling pathway.
- Correlation of molecular findings with specific histologies and clinical features of OTs.
Main Results:
- Molecular profiling has uncovered mutations in oncogenic MAPK/ERK pathway genes in various OTs.
- Specific mutations, such as BRAF and KRAS, are prevalent in ameloblastoma and adenomatoid odontogenic tumors.
- Genetic alterations provide insights into the molecular basis of OTs.
Conclusions:
- Molecular profiling enhances the diagnostic accuracy of odontogenic tumors.
- Identifying specific mutations aids in patient selection for neoadjuvant therapies.
- Molecular insights contribute to reducing postoperative morbidity in OT management.
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