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Published on: August 25, 2023

Genetic and Epigenetic Drivers of Wilms Tumor Predisposition in Russian Pediatric Patients: A Multicenter Study

Vera Semenova1,2, Garik Sagoyan2, Elena Zhukovskaya3

  • 1Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, 119991 Moscow, Russia.

International Journal of Molecular Sciences
|May 13, 2026
PubMed

Insights

Genetic and epigenetic aberrations are found in 24% of pediatric Wilms tumor (WT) patients, linked to higher rates of bilateral disease. Identifying these hereditary factors is key for improved WT treatment and surveillance.

Area of Science:

  • Pediatric Oncology
  • Cancer Genetics
  • Molecular Biology

Background:

  • Wilms tumor (WT) is the most common pediatric kidney cancer, with known hereditary links.
  • Understanding genetic and epigenetic factors is crucial for WT diagnosis and management.

Purpose of the Study:

  • To investigate the spectrum of genetic and epigenetic aberrations in a cohort of pediatric Wilms tumor patients.
  • To correlate identified aberrations with clinical features, such as bilaterality.

Main Methods:

  • Targeted gene sequencing and multiplex ligation-dependent probe amplification (MLPA) were used for genetic analysis.
  • Methylation-sensitive MLPA (MS-MLPA) assessed 11p15 locus methylation for Beckwith-Wiedemann syndrome (BWS) suspicion.

Main Results:

  • Genetic mutations were identified in 17% of patients across eight genes, including WT1, TRIM28, and CHEK2.
  • Large deletions (11p13) and 11p15 locus epigenetic changes (BWS) were found in 6% and 3% of patients, respectively.
  • Overall, 24% of patients had identified genetic or epigenetic aberrations, with a significantly higher frequency of bilateral WT (56% vs. 25%) and abnormalities (86% vs. 25%) compared to unaffected patients.

Conclusions:

  • Genetic and epigenetic abnormalities are present in a significant proportion of Wilms tumor cases.
  • These aberrations are associated with more aggressive disease presentation, including bilaterality.
  • Detection of hereditary predisposing factors is vital for optimizing treatment strategies and long-term patient care for Wilms tumor.

Keywords:
Beckwith–Wiedemann syndromeTRIM28 geneWT1 geneWilms tumorepigeneticsgenetic testingmutationspredisposition

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