ArticleEuropean journal of human genetics : EJHG2017
Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 39 citations in OpenAlex.
- Generation of human-induced pluripotent stem cells from a patient with Beckwith-Wiedemann syndrome.Human cell · 2025Article
- Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor.Genome medicine · 2025Article
- Methylation changes and INS-IGF2 expression predict progression in early-stage Wilms tumor.Clinical epigenetics · 2024Article
- 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
- Imprinting disorders.Nature reviews. Disease primers · 2023Review
- [Tumor predisposition syndromes and nephroblastoma : Early diagnosis with imaging].Radiologie (Heidelberg, Germany) · 2022Review
- Oral Health-Related Quality of Life among Children and Adolescents with Beckwith-Wiedemann Syndrome in Northern Italy.Journal of clinical medicine · 2022Article
- Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians.International journal of environmental research and public health · 2022Article
- Article
- Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.International journal of molecular sciences · 2021Review
- Both Epimutations and Chromosome Aberrations Affect Multiple Imprinted Loci in Aggressive Wilms Tumors.Cancers · 2020Article
- Overgrowth Syndromes-Evaluation, Diagnosis, and Management.Frontiers in pediatrics · 2020Review
- The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrum.Journal of cancer research and clinical oncology · 2019Article
- Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.Nature communications · 2019Article
- Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.European journal of human genetics : EJHG · 2018Article
- Reply to Brioude et al.European journal of human genetics : EJHG · 2018Article
- Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.Nature reviews. Endocrinology · 2018Review
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12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Beckwith-Wiedemann Syndrome (BWS) is an overgrowth syndrome caused by a variety of molecular changes on chromosome 11p15.5. Children with BWS have a significant risk of developing Wilms tumours with the degree of risk being dependent on the underlying molecular mechanism. In particular, only a relatively small number of children with loss of methylation at the centromeric imprinting centre (IC2) were reported to have developed Wilms tumour. Discontinuation of tumour surveillance for children with BWS and loss of methylation at IC2 has been proposed in several recent publications. We report here three children with BWS reported to have loss of methylation at IC2 on clinical testing who developed Wilms tumour or precursor lesions. Using multiple molecular approaches and multiple tissues, we reclassified one of these cases to paternal uniparental disomy for chromosome 11p15.5. These cases highlight the current challenges in definitively assigning tumour risk based on molecular classification in BWS. The confirmed cases of loss of methylation at IC2 also suggest that the risk of Wilms tumour in this population is not as low as previously thought. Therefore, we recommend that for now, all children with a clinical or molecular diagnosis of BWS be screened for Wilms tumour by abdominal ultrasonography until the age of eight years regardless of the molecular classification.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.