Clear Cell Carcinoma in the Oral Cavity with Three Novel Types of EWSR1-ATF1 Translocation: A Case Report

AbstractClear cell carcinoma (CCC) is a rare epithelial malignant tumor of the salivary glands. It is characterized by tumor cells with clear cytoplasm, hyalinized stroma, and most importantly the fusion genesEWSR1-ATF1,EWSR1-CREM, andEWSR1-PLAG1. Break-apart FISH has been performed for multiple CCC cases, but direct sequencing analysis has been performed in relatively few. Herein, we report an interesting case of CCC harboring threeEWSR1-ATF1 translocations:EWSR1 exon 8-ATF1 exon 4,EWSR1 exon 7-ATF1 exon 4, andEWSR1 exon 7-ATF1 exon 5. This case indicates the possibility of independentEWSR1-ATF1 gene translocations, and could provide insight into CCC tumorgenesis.
Source: Head and Neck Pathology - Category: Pathology Source Type: research