NUMERO: #20260045

Título: MUTATIONAL PROFILE IN NEOPLASMS FROM THE INTERCALATED DUCT OF THE SALIVARY GLAND

Nome do Apresentador: Carolinne Alves de OLIVEIRA

Categoria do Trabalho: Pôster - Investigação Original (IO)

Área Temática: Oncologia

Resumo: Objective: To identify potential molecular alterations in benign and malignant neoplasms with myoepithelial differentiation (pleomorphic adenoma, myoepithelioma, basal cell adenoma, carcinoma ex-pleomorphic adenoma, myoepithelial carcinoma, and basal cell adenocarcinoma) and identifying mutational profiles based on tumor subgroup. Study design: Thirteen samples were sequenced using a panel covering 409 cancer-related genes. Following the evaluation of quality criteria and variant identification using databases, prediction tools, bioinformatic analyses, and literature review, genetic variants of interest underwent validation analysis by targeted amplicon sequencing. Results: Ninety-four alterations were observed in all tumors evaluated, being 33 identified as possible targets. After bioinformatic analysis, we selected variants in NOTCH1, NOTCH2, KMT2D, and DNMT3A genes. The validation is based on oncogenic potential, allelic frequency, and literature data, enabling analyses of tumor subtypes and signaling pathways. Analyzing the 13 original samples, only NOTCH1 variants were validated. Additional 20 cases underwent amplicon sequencing, partially confirming the previously validated NOTCH1 variants. Statistically, NOTCH1 mutations were significantly associated with poor prognosis. Conclusion: The evaluated neoplasms could not be differentiated by a specific mutational profile, suggesting that these neoplasms may represent different histological spectra of the same tumor. Furthermore, alterations in NOTCH1 demonstrated a possible association with poor clinical outcomes.

Autor 1:  Carolinne Alves de OLIVEIRA

E-mail 1:  [email protected]

Autor 2:   Rafael Canfield Brianese

E-mail 2:  [email protected]

Autor 3 :  Clóvis Antônio Lopes Pinto

E-mail 3:  [email protected]

Autor 4:  Luiz Paulo Kowalski

E-mail 4:  [email protected]

Autor 5:  Silvia Vanessa Lourenço

E-mail 5:  [email protected]

Autor 6:  Dirce Maria Carraro

E-mail 6:  [email protected]

Autor 7:  Cláudia Malheiros Coutinho-Camillo

E-mail 7:  [email protected]