Expression of a candidate gene for the gonadoblastoma locus in gonadoblastoma and testicular seminoma

The gonadoblastoma locus on the Y chromosome (GBY) predisposes the dysgenet ic gonads of XY females to develop in situ tumors. It has been mapped to a critical interval on the short arm and adjacent centromeric region on the Y chromosome. Currently there are five functional genes identified on the GB Y critical region, thereby providing likely candidates for this cancer pred isposition locus. To evaluate the candidacy of one of these five genes, tes tis-specific protein Y-encoded (TSPY) as the gene for GBY, expression patte rns of TSPY in four gonadoblastoma from three patients were analyzed by imm unohistochemistry using a TSPY specific antibody. Results from this study s howed that TSPY was preferentially expressed in tumor germ cells of all gon adoblastoma specimens. Additional study on two cases of testicular seminoma demonstrated that TSPY was also abundantly expressed in all stages of thes e germ cell tumors. The present observations suggest that TSPY may either b e involved in the oncogenesis of or be a useful marker for both types of ge rm cell tumors. Copyright (C) 2001 S. Karger AG. Basel.