Validation of potential genomic alterations found during the malignant transformation of the pleomorphic adenoma

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. Both tumors show important findings from the genetic point of view in which many of the alterations found are focal and at specific gene sites. However, there are still many open questions about diagnostic markers, pathogenesis, and target therapy of PA and CXPA. In the present project, we will validate a group of genetic alterations found in PA and CXPA through Whole Exome Sequencing (WES). The validation of the main polymorphisms and mutations found after raw data analysis will be performed by immunohistochemistry. This way, analyzing genetic alterations related to tumorigenesis of PA and tumor progression of CXPA, we intend to add significant knowledge to what is currently known about these tumors, and also to provide information about diagnostic markers, pathogenesis, and tumor target therapy, which reflect in application instruments clinical and benefit of future patients affected by these neoplasias. (AU)