Multicolor fluorescence in situ hybridization analysis of a synovial sarcoma of the larynx with a t(X;18)(p11.2;q11.2) and trisomies 2 and 8.

Approximately 10% of all mesenchymal malignancies are classified as synovial sarcomas, which show a balanced translocation t(X;18)(p11.2;q11.2) at the cytogenetic level. The occurrence of this neoplasm in the head and neck region is rare, and its lowest frequency is found in the larynx. When synovial sarcomas are present in such unusual locations, diagnosis based solely on histologic features might be problematic, and to our knowledge, cytogenetic data have been reported so far in only one case of synovial sarcoma of the larynx. Because of the rarity and shortage of consistent prognostic markers, there is no clear consensus for the treatment of these patients. Cytogenetic analysis of a primary case of synovial sarcoma of the larynx was performed by using a 48-color fluorescence in situ hybridization technique that allows differential staining of short and long chromosome arms to establish the karyotype. We report here the molecular cytogenetic analyses of a synovial sarcoma of the larynx harboring the diagnostic t(X;18), as well as trisomies 2 and 8. The karyotypic information on synovial sarcomas of the larynx is scarce, and our data might add to the diagnosis and prognosis of this tumor.