NUMERO: #20231101

Título: ONCOGENES AND TUMOR SUPPRESSOR GENES IN CARCINOMA EX PLEOMORPHIC ADENOMA DEVELOPMENT: OLD FACTS AND NEW HYPOTHESES

Nome do Apresentador: João Figueira SCARINI

Categoria do Trabalho: Painel de pesquisa científica (PPC)

Área Temática: Patologia Oral

Resumo: Background: Carcinoma ex pleomorphic adenoma (CXPA) is a rare tumor that originates from a pre-existing pleomorphic adenoma. Genetic alterations, including oncogene activation and tumor suppressor gene (TSG) inactivation, may drive CXPA development. Objective: To identify the genetic alterations that drive the development of CXPA using whole exome-sequencing (WES). Study Design: WES was performed on DNA samples from 13 CXPA cases, with sequencing reads aligned to the hg38 reference genome. Single nucleotide variants (SNVs) were identified in all samples, and a population disease allele frequency (AF) ≥0.2 filter was applied to the data. Genes available in the TSG (https://bioinfo.uth.edu/TSGene/) and Oncogene (http://ongene.bioinfo-minzhao.org/index.html) databases were used for comparison. Results: Among the 1060 TSGs available in the database, 1.5% (16) were found in our cohort: PCDH9, LRMP, KDM5A, BHLHE41, EPB41L3, RB1, NEDD4L, ARG1, SMYD4, CNDP2, CHFR, TP53, PTPRT, ARL11, STARD13, SEPTIN4, MAPK10. Of the 789 oncogenes available in the database, 0.9% (7) were found in CXPA: SLC12A5, IRS2, LHX1, INPPL1, MYB, CD24, SATB1. Conclusion: The genetic alterations in TSGs, such as TP53, and previously unidentified oncogenes, such as MYB, suggests their potential involvement in the development of CXPA. By identifying MYB, there is a potential opportunity to develop targeted therapy for this tumor.

Acknowledgements
This work was supported by the Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP, grant numbers 15/07304-0, 19/09419-0, and 21/12567-1). We thank the Brazilian Initiative on Precision Medicine (BIPMed) for allowing us to use anonymous raw data from its public database.

Autor 1:  João Figueira SCARINI

E-mail 1:  [email protected]

Autor 2:   Sheila Tiemi NAGAMATSU

E-mail 2:  [email protected]

Autor 3 :  Marcelo Falsarella CARAZZOLLE

E-mail 3:  [email protected]

Autor 4:  Érika Said Abu EGAL

E-mail 4:  [email protected]

Autor 5:  Albina ALTEMANI

E-mail 5:  [email protected]

Autor 6:  Rogerio CASTILHO

E-mail 6:  [email protected]

Autor 7:  Fernanda Viviane MARIANO

E-mail 7:  [email protected]