This study was performed to gain a better understanding of the genetic changes which lead to the development of Wilms tumours.
117 high-risk Wilms tumors (favorable histology tumors which had relapsed, or tumors with diffuse anaplasia) were evaluated through whole genome sequencing, analysis of mRNA and miRNA expression, DNA copy number, and DNA methylation status.
Commonly affected genes were those previously known - CTNNB1, DGCR8, DROSHA, MLLT1, MYCN, SIX1, SIX2, TP53, WT1, and AMER1. Other mutations not previously described were also reported here. CTNNB1 was the gene most commonly mutated in Wilms tumors. Germline mutations were found in 10 % of patients with Wilms tumors. Subgroups were proposed based on expression patterns and DNA methylation patterns. While some mutations and copy number variations segregate with these groups, they do not have any clear clinical significance.
This study was based on genetic and methylation analysis of Wilms tumor, and did not evaluate protein expression profiles. The extent of DNA methylation analysis was limited. Only "high risk" tumors were investigated.