Reciprocal translocation t(12;22)(q13;q13) in clear-cell sarcoma of tendons and aponeuroses.

Clear-cell sarcoma is a rare soft tissue sarcoma that displays certain similarities to malignant melanoma. In this paper we describe the karyotypic findings and in vitro growth characteristics of a short-term-cultured clear-cell sarcoma. The cultured tumor cells had preserved immunohistochemical characteristics and certain ultrastructural features of the primary tumour, including positivity for vimentin, S-100 protein, and a melanoma-associated antigen, supporting the authenticity of the cultured cells. Cytogenetic analysis revealed an abnormal stemline karyotype of 49,XY, -1, +8, +8, +12, +der(1)t(1;?)(p36.1-.3;?), t(12;22)(q13;q13). A similar or identical t(12;22) was recently reported in two of four clear-cell sarcomas. It is suggested that the t(12;22)(q13;q13) is a primary cytogenetic abnormality in clear-cell sarcoma and distinguishes this tumor type from malignant melanoma.