NUMERO: #20250366

Título: INVESTIGATION OF CTNNB1 HOTSPOT MUTATIONS IN ODONTOMAS

Nome do Apresentador: Flávia Martins Vasconcelos FILIÚ

Categoria do Trabalho: Painel de pesquisa científica (PPC)

Área Temática: Patologia Oral

Resumo: Objective: Studies in transgenic murine models have suggested that aberrant activation of the WNT/beta-catenin pathway can induce the formation of structures resembling human odontomas. CTNNB1 hotspot mutations occur in exon 3 and affect the regulatory aminoacids of the beta-catenin protein. Such mutations occur in odontogenic tumors, such as calcifying odontogenic cyst and adenoid ameloblastoma. We aimed to investigate the presence of hotspot mutations in exon 3 of the CTNNB1 gene in odontomas. Study Design: A convenience sample of formalin-fixed, paraffin-embedded (FFPE) odontoma specimens (n=4), containing adequate amounts of cellular material, was used for total genomic DNA (gDNA) isolation. Conventional PCR amplification of exon 3 of the CTNNB1 was followed by Sanger sequencing to assess the presence of mutations. Results: The odontoma samples were derived from two male and two female patients, with age ranging from 12-15 years. All samples harbored wild-type sequences for exon 3 hotspot mutations in the CTNNB1 gene. Conclusion: CTNNB1 hotspot mutations in exon 3 were not detected in odontomas. Further studies involving larger cohorts and the investigation of other WNT/beta-catenin pathway genes are warranted. Funding: This study was funded by the following Brazilian agencies: CAPES/PROEX; FAPEMIG; CNPq.

Autor 1:  Flávia Martins Vasconcelos FILIÚ

E-mail 1:  [email protected]

Autor 2:   Victor Coutinho BASTOS

E-mail 2:  [email protected]

Autor 3 :  Bruna Pizziolo COURA

E-mail 3:  [email protected]

Autor 4:  Carolina Cavaliéri GOMES

E-mail 4:  [email protected]