Analysis of WT1 in Granulosa Cell and Other Sex Cord-Stromal Tumors

The molecular genetic events involved in the etiology of granulosa cell, Sertoli cell, and Leydig cell tumors are unknown. The expression of the Wilms tumor suppressor gene WT1 in granulosa and Sertoli cells prompted us to analyze this gene for mutations in 11 granulosa cell tumors, three Leydig cell tumors, and one Sertoli/Leydig cell tumor. Although most of these tumors express WT1 mRNA, none harbors a WT1 mutation in the zinc finger domains where >90% of WT1 mutations in sporadic Wilms’ tumors have been found. In addition we were able tc exclude tumor-specific loss of heterozygosity in 13 of 15 cases. Taken together these results suggest that the WT1 gene is unlikely to play an important role in the development of sex cord-stromal tumors.