NUMERO: #20260421

Título: Solid adenoid cystic carcinoma is driven by unique genomic alterations and transcriptional landscape

Nome do Apresentador: Luccas LAVAREZE

Categoria do Trabalho: Pôster - Investigação Original (IO)

Área Temática: Patologia Oral

Resumo: Objective: To explore the somatic mutational landscape of head and neck adenoid cystic carcinoma (ACC) and to identify genomic events associated with clinicopathological features. Study design: Clinicopathological and survival data from 48 ACC patients were analyzed. Whole-exome sequencing (WES) was conducted on five tumors. Driver alterations were detected using CHARM and NEST and validated using external transcriptomic datasets (GTEx and RNA-seq). Survival was assessed using Kaplan-Meier analysis, and gene expression was evaluated with a moderated t-test (p < 0.05). Results: Among the identified drivers, GNAQ (80%) and ATM (60%) were recurrently altered by missense and nonsense mutations and significantly upregulated in all ACCs. Among clinicopathological features, genetic alterations were associated exclusively with the solid subtype. Solid tumors were significantly associated with reduced disease-specific survival (p = 0.023) and higher tumor mutational burden. Additionally, decreased expression of TNS4, SAA1, DKK3, and BOC was associated with the solid phenotype, while reduced TNS4, BOC, and DKK3 expression was associated with poorer metastasis-free survival (p < 0.05). Conclusion: ACC showed recurrent GNAQ and ATM mutations. Solid ACC exhibited aggressive clinical behavior, associated with reduced TNS4, BOC, and DKK3 expression.
Funding: The São Paulo State Research Foundation (FAPESP, São Paulo, Brazil, grant number 2022/11861-6).

Autor 1:  Luccas LAVAREZE

E-mail 1:  [email protected]

Autor 2:   João Figueira SCARINI

E-mail 2:  [email protected]

Autor 3 :  Sheila Tiemi NAGAMATSU

E-mail 3:  [email protected]

Autor 4:  Luciana Souto MOFATTO

E-mail 4:  [email protected]

Autor 5:  Arthur ANTOLINI-TAVARES

E-mail 5:  [email protected]

Autor 6:  Albina ALTEMANI

E-mail 6:  [email protected]

Autor 7:  Fernanda Viviane MARIANO

E-mail 7:  [email protected]