Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2023 May:70 Suppl 2:e29984.
doi: 10.1002/pbc.29984. Epub 2022 Sep 12.

The pathophysiology of bilateral and multifocal Wilms tumors: What we can learn from the study of predisposition syndromes

Nils Welter  1 , Jack Brzezinski  2 , Amy Treece  3 , Murali Chintagumpala  4 , Matthew D Young  5 , Daniela Perotti  6 , Kathleen Kieran  7   8 , Marjolijn C J Jongmans  9   10 , Andrew J Murphy  11
Affiliations
Review

The pathophysiology of bilateral and multifocal Wilms tumors: What we can learn from the study of predisposition syndromes

Nils Welter et al. Pediatr Blood Cancer. 2023 May.

Abstract

Approximately 5% of patients with Wilms tumor present with synchronous bilateral disease. The development of synchronous bilateral Wilms tumor (BWT) is highly suggestive of a genetic or epigenetic predisposition. Patients with known germline predisposition to Wilms tumor (WT1 variants, Beckwith Wiedemann spectrum, TRIM28 variants) have a higher incidence of BWT. This Children's Oncology Group (COG)-International Society for Pediatric Oncology (SIOP-) HARMONICA initiative review for pediatric renal tumors details germline genetic and epigenetic predisposition to BWT development, with an emphasis on alterations in 11p15.5 (ICR1 gain of methylation, paternal uniparental disomy, and postzygotic somatic mosaicism), WT1, TRIM28, and REST. Molecular mechanisms that result in BWT are often also present in multifocal Wilms tumor (multiple separate tumors in one or both kidneys). We identify priority areas for international collaborative research to better understand how predisposing genetic or epigenetic factors associate with response to neoadjuvant chemotherapy, oncologic outcomes, and long-term renal function outcomes.

Keywords: 11p15.5; TRIM28; WT1; bilateral Wilms tumor; genetic predisposition; mosaicism.

PubMed Disclaimer

References

REFERENCES

    1. Breslow N, Olshan A, Beckwith JB, Green DM. Epidemiology of Wilms tumor. Med Pediatr Oncol. 1993;21(3):172-181. https://doi.org/10.1002/mpo.2950210305
    1. Petruzzi MJ, Green DM. Wilms' tumor. Pediatr Clin North Am. 1997;44(4):939-952. https://doi.org/10.1016/s0031-3955(05)70538-1
    1. Coppes MJ, de Kraker J, van Dijken PJ, et al. Bilateral Wilms' tumor: long-term survival and some epidemiological features. J Clin Oncol. 1989;7(3):310-315. https://doi.org/10.1200/JCO.1989.7.3.310
    1. Charlton J, Irtan S, Bergeron C, Pritchard-Jones K. Bilateral Wilms tumour: a review of clinical and molecular features. Expert Rev Mol Med. 2017;19:e8. https://doi.org/10.1017/erm.2017.8
    1. Satoh Y, Nakadate H, Nakagawachi T, et al. Genetic and epigenetic alterations on the short arm of chromosome 11 are involved in a majority of sporadic Wilms' tumours. Br J Cancer. 2006;95(4):541-547. https://doi.org/10.1038/sj.bjc.6603302

LinkOut - more resources