ArticleCancer2020
11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood.
Article in Cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 40 citations in OpenAlex.
- Long-term outcomes and patterns of relapse in patients with bilateral Wilms tumor or bilaterally predisposed unilateral Wilms tumor, a report from the COG AREN0534 study.International journal of cancer · 2024Trial
- Recent advances in neonatal Beckwith-Wiedemann syndrome: from molecular diagnosis to multidisciplinary management-a narrative review.Translational pediatrics · 2026Review
- Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.Italian journal of pediatrics · 2025Review
- Wilms tumor characteristics in children with heterozygous germline DIS3L2 variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Epigenetic Regulation in Wilms Tumor.Biomedicines · 2025Review
- Toward a Unified Theory of Why Young People Develop Cancer.Cold Spring Harbor perspectives in medicine · 2024Review
- Hallmark discoveries in the biology of Wilms tumour.Nature reviews. Urology · 2024Review
- Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q.Nature communications · 2023Article
- Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort.Journal of medical genetics · 2023Article
- Article
- A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report.Molecular medicine reports · 2023Article
- Article
- Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affectingJournal of medical genetics · 2023Article
- Article
- Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022Article
- Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.Frontiers in genetics · 2022Article
- Lateralized and Segmental Overgrowth in Children.Cancers · 2021Review
- Article
- DNA Methylation Data-Based Classification and Identification of Prognostic Signature of Children With Wilms Tumor.Frontiers in cell and developmental biology · 2021Article
Corrections and comments
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Authors and funding
30 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundConstitutional or somatic mosaic epimutations are increasingly recognized as a mechanism of gene dysregulation resulting in cancer susceptibility. Beckwith-Wiedemann syndrome is the cancer predisposition syndrome most commonly associated with epimutation and is extremely variable in its phenotypic presentation, which can include isolated tumors. Because to the authors' knowledge large-scale germline DNA sequencing studies have not included methylation analysis, the percentage of pediatric cancer predisposition that is due to epimutations is unknown.
methodsGermline methylation testing at the 11p15.5 locus was performed in blood for 24 consecutive patients presenting with hepatoblastoma (3 patients) or Wilms tumor (21 patients).
resultsSix individuals with Wilms tumor and 1 patient with hepatoblastoma were found to have low-level gain of methylation at imprinting control 1, and a child with hepatoblastoma was found to have loss of methylation at imprinting control 2. The loss of methylation at imprinting control 2 was found to be maternally inherited, despite not being associated with any detectable genomic alteration.
conclusionsOverall, 33% of patients (8 of 24 patients) with Wilms tumor or hepatoblastoma were found to have an epigenetic susceptibility that was detectable in the blood. It is interesting to note that low-level gain of methylation at imprinting control 1 predominantly was detected in females with bilateral Wilms tumors. Further studies in larger cohorts are needed to determine the efficacy of testing all patients with Wilms tumor or hepatoblastoma for 11p15.5 epimutations in the blood as part of DNA analysis because this hallmark of predisposition will not be detected by sequencing-based approaches and detecting a cancer predisposition may modify treatment.
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