SalvGlandDx – a comprehensive salivary gland neoplasm specific next generation sequencing panel to facilitate diagnosis and identify therapeutic targets

• DOI: 10.1016/j.neo.2021.03.008
• Publication Date: 2021-04-19T06:51:48Z
• Authors: Sandra N. Freiberger; Muriel Brada; Christine Fritz; Sylvia Höller; Alexander Vogetseder; Milo Horcic; Michel Bihl; Michal Michal; Martin Lanzer; Martin Wartenberg; Urs Borner; Peter K. Bode; Martina A. Broglie; Tamara Rordorf; Grégoire B. Morand; Niels J. Rupp
• Keywords: Adenoid Cystic Carcinoma

Diagnosis of salivary gland neoplasms is often challenging due to their high morphological diversity and overlaps. Several recurrent molecular alterations have been described recently, which can serve as powerful diagnostic tools potential therapeutic targets (e.g. NTRK or RET fusions). However, current sequential testing be expensive time consuming. In order facilitate the diagnosis neoplasms, we designed an all-in-one RNA-based next generation sequencing panel suitable for detection mutations, fusions gene expression levels (including NR4A3) 27 genes involved in neoplasms. Here present validation "SalvGlandDx" on FFPE histological specimen including fine needle aspiration (FNA) cell block material, against standard methods currently used at our institution. a second part describe selected unique cases SalvGlandDx allowed proper new insights into special characteristics tumors. We characterize adenocarcinoma harboring ZCCHC7-NTRK2 fusion, highly uncommon spindle pseudoangiomatoid adenoid-cystic carcinoma with MYBL1-NFIB purely oncocytic mucoepidermoid carcinoma, whereas could made by CRTC3-MAML2 rearrangement FNA. Further, rare case SS18-ZBTB7A rearranged low-grade previously spectrum microsecretory adenocarcinoma, reported. addition, features six within polymorphous / cribriform PRKD1 p.E710D mutations novel involving PRKAR2A-PRKD1, SNX9-PRKD1 ATL2-PRKD3, are described.