Hyperdiploidy including trisomy 8 in a cystic partially differentiated nephroblastoma

Cystic partially differentiated nephroblastoma (CPDN), a rare, cystic, renal lesion of childhood, has not been previously karyotyped. It is distinguished histologically from multilocular renal cyst by the presence of blastemal cells, and from Wilms' tumor by lack of expansile, solid growth and by indolent clinical behavior. In the present case, ten of 20 analyzed cells from a 3-week culture obtained from the tumor had a clonal, hyperdiploid karyotype. The modal chromosome number was 51, with chromosomes 8, 12, 17, 19, and 20 usually being present in three copies. Trisomy 8 was present in every hyperdiploid cell examined. A normal 46,XY constitutional karyotype was also observed. In degree and significance, the hyperdiploidy of CPDN is thus distinct from that reported in the prognostically unfavorable, anaplastic Wilms' tumor, where the DNA index is typically near-tetraploid. Trisomy 8, as a constitutional mosaicism, has been previously reported in children with bilateral CPDN and/or undifferentiated sarcomas, although none of their tumors were karyotyped. The present findings support a neoplastic nature for CPDN, while emphasizing its pathogenetic distinctiveness from Wilms' tumor, and provide further evidence for significance of trisomy 8 in the pathobiology of this tumor.