Molecular diagnostics in odontogenic tumors.

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.