Molecular analysis of clear cell sarcoma with translocation (1;6)(p32.3;q21)

A 23-month-old boy presented with an 11-month history of abdominal distention. Examination disclosed a large tumor in the right kidney and transabdominal radical nephrectomy was performed. Histopathological study demonstrated clear cell sarcoma of the kidney (CCSK). Cytogenetic analyses performed with blood lymphocytes showed translocation (1;6) (p32.3;q21). This is the first case of CCSK showing chromosomal translocation in blood lymphocytes. In addition, molecular analyses demonstrated high expression levels of EGFR and KIT proteins in the tumor tissue of CCSK. These molecular findings suggest that tyrosine kinase receptors may be potential therapeutic targets for CCSK in the future.