Journal of Pediatric Surgery Open · Published 2026-01-26 · DOI 10.1016/j.yjpso.2026.100269
Background: The discovery of the genetic underpinnings of Wilms tumor (WT), including gain 1q and loss of heterozygosity 1p and 16q chromosomal copy alterations, has inspired decades of research. Current treatment guidelines for WT consider genetic mutations and chromosomal copy number variations to inform therapeutic recommendations. Identification of genetic factors with a predisposition for relapsed, refractory and/or high-stage WT would enhance patient-specific treatment plans. Methods: Single-center retrospective study of pediatric patients diagnosed with WT from 2000-2021. Patient data collected included demographics, clinical course, and pathology. All patients enrolled in the Precision in Pediatrics Sequencing (PIP-seq) program underwent a comprehensive genome-level analysis. Mann-Whitney U test was used for the analysis of continuous variables and Chi-Square test was used for categorical variables. Results: A total of 74 patients were diagnosed and treated for WT at our institution from 2000-2021, of these 17 (23%) were enrolled in the PIP-seq program. The analysis revealed new associations, including the presence of CTNBB1 and low-stage disease, which did not necessitate postoperative radiation (p=0.05). An association was identified between patient mortality and the loss of chromosome 17 (p=0.02). Additionally, several existing prognostic associations were confirmed in our data, including the gain of chromosome 1q and the loss of chromosome 1p. Conclusions: Prognostic correlations identified in this study include statistically significant associations between CTNBB1 mutations and low-stage disease as well as loss of chromosome 17 and mortality. Continued investigation of genetic factors with prognostic value in treating WT is necessary to further advance patient-specific targeted therapy.
Abstract from DOAJ. Public domain (CC0 1.0).
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