Novel PRKD Gene Rearrangements and Variant Fusions in Cribriform Adenocarcinoma of Salivary Gland Origin
Abstract
Polymorphous low-grade adenocarcinoma (PLGA) and cribriform adenocarcinoma of minor salivary gland (CAMSG) are low-grade carcinomas arising most often in oral cavity and oropharynx, respectively. Controversy exists as to whether these tumors represent separate entities or variants of one spectrum, as they appear to have significant overlap, but also clinicopathologic differencese.
As many salivary carcinomas harbor recurrent translocations, paired-end RNA sequencing and FusionSeq data analysis was applied for novel fusion discovery on two CAMSGs and two PlGAs. Validated rearrangements were then screened by fluorescence in situ hybridization (FISH) in 60 case.
Histologic classification was performed without knowledge of fuion status and included: 21 CAMSG, 18 classic PlGA, and 21 with "mixed/indeterminate" features.