Molecular diagnostics in odontogenic tumors

Die Pathologie - Tập 43 Số S1 - Trang 81-85 - 2022
Reinhard Buettner1, Sibel Elif Gültekin2
1Institute of Pathology, Medical Faculty, University of Cologne, Cologne, Germany
2Dept of Oral Pathology, Faculty of Dentistry, Gazi University, Ankara, Turkey

Tóm tắt

Abstract 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

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Die Pathologie

Tập 43 Số S1

81-85

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