Salivary Gland Cancer in the Era of Routine Next-Generation Sequencing

AbstractNext-Generation Sequencing (NGS) is being utilized with increasing frequency in the characterization of salivary gland tumours. The potential scenarios which may be encountered by using this technique in routine practice will be outlined in further text by drawing from our own clinical experience. These include oncocytic mucoepidermoid carcinomas with unusual variant morphology (and negativeMAML2 fluorescent in-situ hybridization results), a diagnosis of ameloblastoma changed to adenoid cystic carcinoma (due toMYBL1 fusion presence), a salivary duct carcinoma with anETV6-NTRK3 fusion (otherwise seen in secretory carcinomas) and novel fusion partners such asEWSR1-BEND2 (otherwise seen in pancreatic neuroendocrine carcinomas). As NGS continues to develop and more widespread clinical implementation increases, we must be cognisant of the need for proper interpretation and in some cases verification using a secondary technique, the limitations of this technique, and the ethical dilemmas one faces when encountering a novel fusion.
Source: Head and Neck Pathology - Category: Pathology Source Type: research