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We describe a stromal predominant Wilms tumor with focal anaplasia and a complex, tumor specific chromosome 11 aberration: a homozygous deletion of the entire  WT1  gene within a heterozygous 11p13 deletion and an additional region of uniparental disomy (UPD) limited to 11p15.5-p15.2 including the  IGF2  gene. The tumor carried a heterozygous p.T41A mutation in  CTNNB1 . Cells established from the tumor carried the same chromosome 11 aberration, but a different, homozygous p.S45Δ  CTNNB1  mutation. Uniparental disomy (UPD) 3p21.3pter lead to the homozygous  CTNNB1  mutation. The tumor cell line was immortalized using the catalytic subunit of human telomerase (h TERT ) in conjunction with a novel thermolabile mutant (U19dl89-97tsA58) of SV40 large T antigen (LT). This cell line is cytogenetically stable and can be grown indefinitely representing a valuable tool to study the effect of a complete lack of  WT1  in tumor cells. The origin/fate of Wilms tumors with  WT1  mutations is currently poorly defined. Here we studied the expression of several genes expressed in early kidney development, e.g.  FOXD1 ,  PAX3 ,  SIX1 ,  OSR1 ,  OSR2  and  MEIS1  and show that these are expressed at similar levels in the parental and the immortalized Wilms10 cells. In addition the limited potential for muscle/ osteogenic/ adipogenic differentiation similar to all other  WT1  mutant cell lines is also observed in the Wilms10 tumor cell line and this is retained in the immortalized cells. In summary these Wilms10 cells are a valuable model system for functional studies of  WT1  mutant cells.

plos one

Establishment of a Conditionally Immortalized Wilms Tumor Cell Line with a Homozygous WT1 Deletion within a Heterozygous 11p13 Deletion and UPD Limited to 11p15