Myoepithelial carcinoma of the parotid gland with a novel CTCF:NCOA2 fusion. Issue 3 (16th November 2022)

• Record Type: Journal Article
• Authors: Gandhi, Jatin; Mantilla, Jose G.; Ricciotti, Robert W.; Chen, Eleanor Y.; Liu, Yajuan J.; Bandhlish, Anshu
• Is Part Of: Genes, chromosomes & cancer. Volume 62:Issue 3(2023)
• Page Start: 161
• Page End: 166
• Publication Date: 2022-11-16
• Subjects: gene fusion -- myoepithelial carcinoma -- NCOA2 -- parotid gland; Cancer -- Genetic aspects -- Periodicals; 616.994042
• DOI: 10.1002/gcc.23101
• Languages: English
• ISSNs: 1045-2257

Abstract

Abstract: We describe a case of a myoepithelial carcinoma of the superficial parotid gland in a 46‐year‐old male harboring a novel CTCF::NCOA2 gene fusion. To our knowledge, this novel gene fusion has not been described previously in myoepithelial carcinoma. A 46‐year‐old male patient presented with a mass involving the superficial left parotid gland with extension into the external auditory canal (EAC) and erosion of the conchal cartilage. Histologically, the neoplasm was composed of uniform spindled, epithelioid/ovoid cells arranged in cords and nests within hyalinized to myxoid stroma. On immunohistochemistry (IHC), the tumor cells demonstrated patchy and variable staining for low molecular weight cytokeratin (CAM5.2), pan‐cytokeratin (OSCAR), and S‐100. Overall, the morphological and immunohistochemical attributes supported a locally aggressive tumor of myoepithelial differentiation consistent with myoepithelial carcinoma. Molecular analysis using a custom 115‐gene gene panel by targeted RNA sequencing, showed an in‐frame CTCF::NCOA2 fusion. In addition to reporting this novel fusion in myoepithelial carcinoma, we also discuss relevant differential diagnosis, and provide a brief review of NCOA2 gene function in both normal and neoplastic contexts.