Synovial sarcoma: cytopathology of 51 cases highlighting the application of ancillary molecular testing.

Abstract

Among sarcomas, synovial sarcoma (SS) is defined by its unique SS18 cytogenetic translocation. Fine needle aspiration (FNA) biopsy is in a key position to exploit this uniqueness for diagnostic purposes. Our cytopathology files were searched for examples of SS with histopathologic verification. FNA biopsy, imprint smears, and core needle biopsy (CNB) were performed using standard techniques. Fifty-one cases from 49 patients (male/female ratio, 1:1; age range, 12-79 years; mean age, 40 years) met the inclusion criteria. Of the 51 cases, 44 (86%) were FNAs, 6 were cytology imprints, and 1 was pleural fluid. Eleven aspirates had concurrent CNB. All cases had tissue confirmation. The biopsy sites included extremities (n = 24; 47%), trunk (n = 12; 24%), lung (n = 8; 16%), head or neck (n = 6; 12%), and pleural fluid (n = 1; 2%). The aspirates were from primary (n = 36; 71%), metastatic (n = 12; 24%), and recurrent (n = 3; 5%) neoplasms. The cytologic diagnoses were SS (69%), suspicious for SS (12%), malignancy (10%), spindle cell neoplasm (4%), and malignancy other than SS (6%). In general, smears and imprints contained dense cell aggregates and single cells composed of a monotonous population having fusiform, rounded, or ovoid banal nuclei and scant cytoplasm. Poorly differentiated SS showed both large epithelioid cell and small cell cytomorphology. When performed, SS18 immunohistochemical and genetic testing was positive in all 19 FNA and 3 CNB cases. When coupled with appropriate ancillary testing, FNA biopsy allows for a specific, accurate diagnosis of SS in most cases.