Open AccessSalivary Gland Cancer in the Era of Routine Next-Generation Sequencing
Author(s) -
Emilija Todorovic,
Brendan C. Dickson,
Ilan Weinreb
Publication year - 2020
Publication title -
head and neck pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.801
H-Index - 50
eISSN - 1936-0568
pISSN - 1936-055X
DOI - 10.1007/s12105-020-01140-4
Subject(s) - mucoepidermoid carcinoma , salivary gland , adenoid cystic carcinoma , fusion gene , etv6 , pathology , fluorescence in situ hybridization , medicine , adenoid , carcinoma , biology , gene , chromosomal translocation , chromosome , biochemistry
Next-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 negative MAML2 fluorescent in-situ hybridization results), a diagnosis of ameloblastoma changed to adenoid cystic carcinoma (due to MYBL1 fusion presence), a salivary duct carcinoma with an ETV6-NTRK3 fusion (otherwise seen in secretory carcinomas) and novel fusion partners such as EWSR1-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.