Genomic alterations in the malignant transformation of the Pleomorphic Adenoma

• Grant number: 19/09419-0
• Support type: Scholarships in Brazil - Doctorate
• Effective date (Start): January 01, 2021
• Effective date (End): July 31, 2023
• Field of knowledge: Health Sciences - Medicine - Pathological Anatomy and Clinical Pathology
• Principal researcher: Fernanda Viviane Mariano Brum Corrêa
• Grantee: João Figueira Scarini
• Home Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
• Associated research grant: 15/07304-0 - Study of genetic and metabolic changes of pleomorphic adenoma and carcinoma ex pleomorphic adenoma by exome, gene expression and immunohistochemistry, AP.JP
• Associated scholarship(s): 21/12567-1 - Validation of potential genomic alterations found during the malignant transformation of the pleomorphic adenoma, BE.EP.DR

Abstract

Among the tumors that can affect the salivary glands, two entities constitute interesting models for the study of the mechanism of malignant transformation. The first one, the most common benign tumor in the salivary gland, Pleomorphic Adenoma (PA), may undergo genetic transformations resulting in its malignant counterpart, Carcinoma Ex Pleomorphic Adenoma (CXPA). The latter is a rare and aggressive neoplasm, with metastasis and death in a large percentage of the cases. Although both tumors present important findings from a genetic point of view, the alterations found are focal and in specific gene sites, leaving many doubts about diagnostic markers, pathogenesis, and target therapy of PA and CXPA. In this project, we will study a group of PA and CXPA (subdivided as to the histological type and degree of progression) through the complete sequencing of the exome (Whole Exome Sequencing - WES) and we will complement the findings with previous results of our group that was performed with the CGH-array technique. In this way, we hope to expand individual genetic knowledge about PA and CXPA and still be able to compare not only the changes in the number of copies and mutations acquired in the benign counterpart and which are preserved in the carcinoma but also the particular changes to the malignant tumor. Furthermore, by analyzing genetic alterations related to PA tumorigenesis and CXPA tumor progression, we intend to add significant knowledge to what is currently known about these tumors and also to be able to provide information on diagnostic markers, pathogenesis, and target therapy, which will later be reflected in instruments for clinical application and prognostic improvement of patients affected by these neoplasms. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

DE LIMA-SOUZA, REYDSON ALCIDES; RODRIGUES, NATALIA DE MAGALHAES; SCARINI, JOAO FIGUEIRA; SOBRAL SILVA, MARIO FERNANDEZ; TINCANI, ALFIO JOSE; ABU EGAL, ERIKA SAID; ALTEMANI, ALBINA; MARIANO, FERNANDA VIVIANE. Metabolic alterations in carcinoma ex pleomorphic adenoma development of lacrimal glands. INTERNATIONAL OPHTHALMOLOGY, NOV 2021. Web of Science Citations: 0.

DE ANGELIS, CAMILA MATSUNAGA; DE LIMA-SOUZA, REYDSON ALCIDES; SCARINI, JOAO FIGUEIRA; ABU EGAL, ERIKA SAID; DO AMARAL-SILVA, GLEYSON KLEBER; GONDAK, ROGERIO DE OLIVEIRA; DE ALMEIDA, OSLEI PAES; CHONE, CARLOS TAKAHIRO; KOWALSKI, LUIZ PAULO; ALTEMANI, ALBINA; MARIANO, FERNANDA VIVIANE. Immunohistochemical Expression of Fatty Acid Synthase (FASN) is Correlated to Tumor Aggressiveness and Cellular Differentiation in Salivary Gland Carcinomas. Head and Neck Pathology, APR 2021. Web of Science Citations: 0.

DOS SANTOS, ERISON SANTANA; NORMANDO, ANA GABRIELA COSTA; SCARINI, JOAO FIGUEIRA; CRESCENCIO, LIVIA RAMALHO; DE LIMA-SOUZA, REYDSON ALCIDES; MARIANO, FERNANDA VIVIANE; LEME, ADRIANA FRANCO PAES. Diagnostic and prognostic value of miRNAs on salivary gland tumors: a systematic review and meta-analysis. ORAL AND MAXILLOFACIAL SURGERY-HEIDELBERG, MAR 2021. Web of Science Citations: 0.