Somatic, Genetic and Epigenetic Changes in Nephrogenic Rests and Their Role in the Transformation to Wilms Tumors, a Systematic Review

Tessa Bánki; Jarno Drost; Marry M van den Heuvel-Eibrink; Annelies M C Mavinkurve-Groothuis; Ronald R de Krijger

doi:10.3390/cancers15051363

Somatic, Genetic and Epigenetic Changes in Nephrogenic Rests and Their Role in the Transformation to Wilms Tumors, a Systematic Review

Cancers (Basel). 2023 Feb 21;15(5):1363. doi: 10.3390/cancers15051363.

Authors

Tessa Bánki¹, Jarno Drost^{1

2}, Marry M van den Heuvel-Eibrink¹, Annelies M C Mavinkurve-Groothuis¹, Ronald R de Krijger^{1

3}

Affiliations

¹ Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, The Netherlands.
² Oncode Institute, 3584 CS Utrecht, The Netherlands.
³ Department of Pathology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.

Abstract

Objective: To review somatic genetic changes in nephrogenic rests (NR), which are considered to be precursor lesions of Wilms tumors (WT).

Methods: This systematic review is written according to the PRISMA statement. PubMed and EMBASE were systematically searched for articles in the English language studying somatic genetic changes in NR between 1990 and 2022.

Results: Twenty-three studies were included in this review, describing 221 NR of which 119 were pairs of NR and WT. Single gene studies showed mutations in WT1 and WTX, but not CTNNB1 to occur in both NR and WT. Studies investigating chromosomal changes showed loss of heterozygosity of 11p13 and 11p15 to occur in both NR and WT, but loss of 7p and 16q occurred in WT only. Methylome-based studies found differential methylation patterns between NR, WT, and normal kidney (NK).

Conclusions: Over a 30-year time frame, few studies have addressed genetic changes in NR, likely hampered by technical and practical limitations. A limited number of genes and chromosomal regions have been implicated in the early pathogenesis of WT, exemplified by their occurrence in NR, including WT1, WTX, and genes located at 11p15. Further studies of NR and corresponding WT are urgently needed.

Keywords: Wilms tumors; epigenetic alterations; genetic changes; nephroblastomatosis; nephrogenic rests.

Publication types

Review

Grants and funding

This research received no external funding.