Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant

Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant – A first report

Published:2023-11-22 Issue: Volume: Page:
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Author:

Whitworth James¹^ORCID,Armstrong Ruth²,Maher Eamonn¹

Affiliation:

1. University of Cambridge

2. Cambridge University Hospitals NHS Foundation Trust

Abstract

Abstract Wilms tumour (nephroblastoma) is a renal embryonal tumour that is frequently caused by constitutional variants in a small range of cancer predisposition genes. TRIM28 has recently been identified as one such gene. Previously, observational data strongly suggested a parent of origin effect, whereby Wilms tumour only occurred following maternal inheritance of a pathogenic genetic variant. However, here we report a child with bilateral Wilms tumour who had inherited a pathogenic TRIM28 variant from their father. This finding suggests that genetic counselling for paternally inherited pathogenic variants in TRIM28 should include discussion of a potential risk of Wilms tumour.

Publisher

Research Square Platform LLC

Reference17 articles.

1. Rivera MN, Haber DA. Wilms’ tumour: connecting tumorigenesis and organ development in the kidney. Nat Rev Cancer [Internet]. 2005;5(9):699–712. Available from: http://www.ncbi.nlm.nih.gov/pubmed/16110318

2. Coorens THH, Treger TD, Al-Saadi R, Moore L, Tran MGB, Mitchell TJ, et al. Embryonal precursors of Wilms tumor. Science [Internet]. 2019;366(6470):1247–51. Available from: http://www.ncbi.nlm.nih.gov/pubmed/31806814

3. Hol JA, Jewell R, Chowdhury T, Duncan C, Nakata K, Oue T, et al. Wilms tumour surveillance in at-risk children: Literature review and recommendations from the SIOP-Europe Host Genome Working Group and SIOP Renal Tumour Study Group. Eur J Cancer [Internet]. 2021;153:51–63. Available from: http://www.ncbi.nlm.nih.gov/pubmed/34134020

4. Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, et al. Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol [Internet]. 2018;14(4):229–49. Available from: http://www.ncbi.nlm.nih.gov/pubmed/29377879

5. Identification of new Wilms tumour predisposition genes: an exome sequencing study;Mahamdallie S;Lancet Child Adolesc Heal,2019