NUMERO: #20260202

Título: ABERRANT WNT/BETA-CATENIN SIGNALLING IN HUMAN ODONTOMA

Nome do Apresentador: Victor Coutinho BASTOS

Categoria do Trabalho: Pôster - Investigação Original (IO)

Área Temática: Patologia Oral

Resumo: Objective: To investigate the status of the WNT/beta-catenin signalling pathway in human odontomas and identify associated genetic variants. Study design: A retrospective observational study was conducted on archived human odontomas (n=75). Immunohistochemistry assessed beta-catenin immunoexpression patterns (n=59), categorising cases by membrane (+), cytoplasmic (++), or nuclear (+++) immunoreactivity. Samples with nuclear immunoexpression (+++) (n=15) underwent targeted next-generation sequencing of CTNNB1, AXIN1, AXIN2, GSK3B, and APC genes. Results: Highly elevated cytoplasmic and nuclear beta-catenin accumulation (+++) was observed in 25.4% of cases (15/59). Sequencing was successful in 12/15 samples, with 4 harbouring variants of potential biological relevance. A hotspot mutation in CTNNB1 (p.Asp32Gly) was identified in 1/12 cases. Recurrent variants included CTNNB1 rs3864004 (3/12), GSK3B rs57215349 (3/12) and rs2037547 (2/12), APC rs79896135 (1/12) and rs141576417 (1/12), AXIN1 rs393521 (2/12), and AXIN2 rs8080680 (3/12). Conclusion: A subset of human odontomas demonstrates activated WNT/beta-catenin signalling, supported by protein localisation and genetic alterations. These findings implicate aberrant pathway activation in odontoma pathogenesis and align human disease with mechanisms described in experimental models. Funding: The study was supported by the Starter Grant for Clinical Lecturers scheme of the Academy of Medical Sciences/UK. VCB received a CAPES/Brazil scholarship and financial support from FAPEMIG/Brazil.

Autor 1:  Victor Coutinho BASTOS

E-mail 1:  [email protected]

Autor 2:   Maisa SEPPALA

E-mail 2:  [email protected]

Autor 3 :  Rhonda HENLEY-SMITH

E-mail 3:  [email protected]

Autor 4:  Simon TOMS

E-mail 4:  [email protected]

Autor 5:  Selvam THAVARAJ

E-mail 5:  [email protected]

Autor 6:  Cynthia L. ANDONIADOU

E-mail 6:  [email protected]

Autor 7:  Martyn T. COBOURNE

E-mail 7:  [email protected]