Soft tissue sarcomas account for only about 1% of all malignant diseases and there are less than 8,700 new cases per year in the United States. Clear cell sarcoma (CCS), a highly malignant tumor of deep soft tissues is perhaps the rarest of these. CCS is characterized by the translocation t(12;22)(q13;q12). This translocation rearranges the ATF1 gene at 12q13 and the EWSR1 gene at 22q12, originating an EWSR1/ATF1 fusion gene. Given its specificity, this genetic aberration is considered pathognomonic for CCS and can be used as a diagnostic marker of this neoplasia.
Human diseases in ICD-11 classification [BR:br08403]
Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
Malignant mesenchymal neoplasms
2B5K Unspecified malignant soft tissue tumours or sarcomas of bone or articular cartilage of other or unspecified sites
H00052 Clear cell sarcoma of soft tissue