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Hol JA, Diets IJ, de Krijger RR, et al. TRIM28 variants and Wilms' tumour predisposition. J Pathol. 2021;254(4):494-504doi: 10.1002/path.5639.
Hol, J. A., Diets, I. J., de Krijger, R. R., van den Heuvel-Eibrink, M. M., Jongmans, M. C., & Kuiper, R. P. (2021). TRIM28 variants and Wilms' tumour predisposition. The Journal of pathology, 254(4), 494-504. https://doi.org/10.1002/path.5639
Hol, Janna A, et al. "TRIM28 variants and Wilms' tumour predisposition." The Journal of pathology vol. 254,4 (2021): 494-504. doi: https://doi.org/10.1002/path.5639
Hol JA, Diets IJ, de Krijger RR, van den Heuvel-Eibrink MM, Jongmans MC, Kuiper RP. TRIM28 variants and Wilms' tumour predisposition. J Pathol. 2021 Jul;254(4):494-504. doi: 10.1002/path.5639. Epub 2021 Mar 15. PMID: 33565090; PMCID: PMC8252630.
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J Pathol. 2021 Jul;254(4):494-504. doi: 10.1002/path.5639. Epub 2021 Mar 15.

TRIM28 variants and Wilms' tumour predisposition.

The Journal of pathology

Janna A Hol, Illja J Diets, Ronald R de Krijger, Marry M van den Heuvel-Eibrink, Marjolijn Cj Jongmans, Roland P Kuiper

Affiliations

  1. Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
  2. Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  3. Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands.
  4. Department of Genetics, University Medical Center Utrecht/Wilhelmina Children's Hospital, Utrecht, The Netherlands.

PMID: 33565090 PMCID: PMC8252630 DOI: 10.1002/path.5639

Abstract

TRIM28 was recently identified as a Wilms' tumour (WT) predisposition gene, with germline pathogenic variants identified in around 1% of isolated and 8% of familial WT cases. TRIM28 variants are associated with epithelial WT, but the presence of other tumour components or anaplasia does not exclude the presence of a germline or somatic TRIM28 variant. In children with WT, TRIM28 acts as a classical tumour suppressor gene, with both alleles generally disrupted in the tumour. Therefore, loss of TRIM28 (KAP1/TIF1beta) protein expression in tumour tissue by immunohistochemistry is an effective strategy to identify patients carrying pathogenic TRIM28 variants. TRIM28 is a ubiquitously expressed corepressor that binds transcription factors in a context-, species-, and cell-type-specific manner to control the expression of genes and transposable elements during embryogenesis and cellular differentiation. In this review, we describe the inheritance patterns, histopathological and clinical features of TRIM28-associated WT, as well as potential underlying mechanisms of tumourigenesis during embryonic kidney development. Recognizing germline TRIM28 variants in patients with WT can enable counselling, genetic testing, and potential early detection of WT in other children in the family. A further exploration of TRIM28-associated WT will help to unravel the diverse and complex mechanisms underlying WT development. © 2021 The Authors. The Journal of Pathology published by John Wiley & Sons, Ltd. on behalf of The Pathological Society of Great Britain and Ireland.

© 2021 The Authors. The Journal of Pathology published by John Wiley & Sons, Ltd. on behalf of The Pathological Society of Great Britain and Ireland.

Keywords: KAP1; TIF1beta; TRIM28; Wilms' tumour; cancer predisposition; embryonic kidney development; nephroblastoma

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