Long-term kidney function in children with Wilms tumour and constitutional WT1 pathogenic variant

Background Wilms tumour (WT) survivors, especially patients with associated syndromes or genitourinary anomalies due to constitutional WT1 pathogenic variant, have increased risk of kidney failure. We describe the long-term kidney function in children with WT and WT1 pathogenic variant to inform the surgical strategy and oncological management of such complex children. Methods Retrospective analysis of patients with WT and constitutional WT1 pathogenic variant treated at a single centre between 1993 and 2016, reviewing genotype, phenotype, tumour histology, laterality, treatment, patient survival, and kidney outcome. Results We identified 25 patients (60% male, median age at diagnosis 14 months, range 4–74 months) with WT1 deletion (4), missense (2), nonsense (8), frameshift (7), or splice site (4) pathogenic variant. Thirteen (52%) had bilateral disease, 3 (12%) had WT-aniridia, 1 had incomplete Denys-Drash syndrome, 11 (44%) had genitourinary malformation, and 10 (40%) had no phenotypic anomalies. Patient survival was 100% and 3 patients were in remission after relapse at median follow-up of 9 years. Seven patients (28%) commenced chronic dialysis of which 3 were after bilateral nephrectomies. The overall kidney survival for this cohort as mean time to start of dialysis was 13.38 years (95% CI: 10.3–16.4), where 7 patients experienced kidney failure at a median of 5.6 years. All of these 7 patients were subsequently transplanted. In addition, 2 patients have stage III and stage IV chronic kidney disease and 12 patients have albuminuria and/or treatment with ACE inhibitors. Four patients (3 frameshift; 1 WT1 deletion) had normal blood pressure and kidney function without proteinuria at follow-up from 1.5 to 12 years. Conclusions Despite the known high risk of kidney disease in patients with WT and constitutional WT1 pathogenic variant, nearly two-thirds of patients had sustained native kidney function, suggesting that nephron-sparing surgery (NSS) should be attempted when possible without compromising oncological risk. Larger international studies are needed for accurate assessment of WT1genotype-kidney function phenotype correlation.

A rare case of adult Wilms tumor: case report and literature review from a tertiary centre

Nephroblastoma (Wilms’ tumour) in adult population is extremely rarefied scenario and has a poorer prognosis than paediatric Wilms’ tumour with an incidence of about 0.2 per million per year in the USA and Europe. Clinical presentation is also distinct between children and adults. In adults, manifestation is usually hematuria and abdominal pain while paediatric cases frequently present with an asymptomatic abdominal lump. It is arduous to demarcate adult Wilms’ tumour from renal cell carcinoma based on radiology alone. The final diagnosis in adult cases is often fortuitous following radical nephrectomy for presumed adult Renal cell carcinoma (RCC). Due to the lack of published discussion, there are no standard protocols for the management of adult Wilms tumour (WT) hence it is managed as per paediatric WT. In view of this, we report a case of adult WT in a 32-years-old female, who was diagnosed propitiously following right radical nephrectomy for an assumed right renal mass.