PIK3R1 , HRAS and AR Gene Alterations Associated with Sclerosing Polycystic Adenoma of the Parotid Gland

• Published in: Current issues in molecular biology 2023-01, Vol.45 (2), p.954-962
• Main Authors: Bahmad, Hisham F, Elhammady, Gina, Gass, Jennifer M, Paramo, Juan C, Poppiti, Robert, Alexis, John
• Format: Article
• Language: English
• Subjects: Case Report; HRAS; next generation sequencing; parotid gland; PIK3R1; sclerosing polycystic adenoma
• ISSN: 1467-3045; 1467-3037; 1467-3045
• DOI: 10.3390/cimb45020061

Sclerosing polycystic adenoma (SPA) is a rare neoplasm occurring in the salivary glands, mainly the parotid gland. Although it was originally thought to represent a non-neoplastic process, recent genetic data have proven its monoclonality, supporting its neoplastic origin. We report a case of a 73-year-old woman who presented with left neck swelling and pain. A 3 cm hypoechoic, heterogeneous, solid mass was identified on neck ultrasonography within the left parotid gland. Fine needle aspiration revealed benign acinar cells and lymphocytes. Left partial superficial parotidectomy was performed and a diagnosis of SPA was made. Targeted next-generation sequencing (NGS) revealed three clinically significant alterations in the , , and genes. Alterations in the gene have been previously reported in cases of SPA; however, this study is the first to report two novel clinically significant genomic alterations in the and genes. AR protein expression by immunohistochemistry was strongly and diffusely positive in the neoplastic epithelial cells compared to the adjacent normal salivary gland tissue, which was dead negative for AR. This molecular profile will enhance our understanding of the molecular pathways underlying the development of this tumor. Although this entity was initially thought to be a reactive process, evidence from our case and similar cases strongly support the notion that it is neoplastic due to the presence of specific genetic alterations linked to it.