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Purpose  The presence of diffuse anaplasia in Wilms tumours (DAWT) is associated with  TP53  mutations and poor outcome. As patients receive intensified treatment, we sought to identify whether  TP53  mutational status confers additional prognostic information.    Patients and Methods  We studied 40 patients with DAWT with anaplasia in the tissue from which DNA was extracted and analysed for  TP53  mutations and 17p loss. The majority of cases were profiled by copy number (n = 32) and gene expression (n = 36) arrays.  TP53  mutational status was correlated with patient event-free and overall survival, genomic copy number instability and gene expression profiling.    Results  From the 40 cases, 22 (55%) had  TP53  mutations (2 detected only after deep-sequencing), 20 of which also had 17p loss (91%); 18 (45%) cases had no detectable mutation but three had 17p loss. Tumours with  TP53  mutations and/or 17p loss (n = 25) had an increased risk of recurrence as a first event (p = 0.03, hazard ratio (HR), 3.89; 95% confidence interval (CI), 1.26–16.0) and death (p = 0.04, HR, 4.95; 95% CI, 1.36–31.7) compared to tumours lacking  TP53  abnormalities. DAWT carrying  TP53  mutations showed increased copy number alterations compared to those with wild-type, suggesting a more unstable genome (p = 0.03). These tumours showed deregulation of genes associated with cell cycle and DNA repair biological processes.    Conclusion  This study provides evidence that  TP53  mutational analysis improves risk stratification in DAWT. This requires validation in an independent cohort before clinical use as a biomarker.

TP53 Mutational Status Is a Potential Marker for Risk Stratification in Wilms Tumour with Diffuse Anaplasia