Clear Cell Carcinoma of Palatal Minor Salivary Gland Harboring a Novel EWSR1 - ATF1 Fusion Gene: Report of a Case and Review of the Literature

AbstractClear cell carcinoma (CCC) is a rare low-grade malignant salivary gland carcinoma.EWSR1-ATF1 fusion has been characterized as a consistent finding in CCC, with breakpoints described betweenEWSR1 exon 11 andATF1 exon 3. So far, over 100 cases of CCC harboringEWSR1 rearrangement arising from salivary gland of the oral cavity have been reported. AlthoughEWSR1 involvement in these cases was confirmed byEWSR1 break-apart FISH indicating the translocation, sequence analysis forEWSR1-ATF1 fusion type has been reported only in three cases of CCC so far. Herein, we report a CCC case with novelEWSR1-ATF1 fusion (EWSR1 exon 15 andATF1 exon 5) arising in minor salivary gland and review the role of the chimeric variants in some malignancies withEWSR1-ATF1 rearrangement. Current tumor was composed of  the small nests of clear tumor cells and hyalized fibrous stroma. Immunohistochemically, the tumor was positive for AE1/AE3, CK5/6 and p63, negative for S100, Melan-A, SMA and CD10. After 8 months of follow-up, there are no evidence of recurrence.
Source: Head and Neck Pathology - Category: Pathology Source Type: research