Unexpected Wilms’ tumor in a pediatric renal transplant recipient: suspected Denys-Drash syndrome

Cleper, Roxana; Davidovitz, Miriam; Krause, Irit; Nathan, Naveen; Ash, Susan; Schwarz, Michael; C, Mor; Eisenstein, Bella

doi:10.1016/s0041-1345(99)00150-5

Cited by 7 publications

(2 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The risk of carcinoma is also markedly increased in patients with Wiskott-Aldrich syndrome or Drash syndrome. In transplant recipients with these rare syndromes, an excessive frequency of lymphoma and Wilms' tumor was noted (36,37). The hypothesis that genetic predisposition plays a role in the genesis of posttransplant malignancies is also supported by the observation that patients with malignancies after transplantation often have more than one type of tumor.…”

Section: Genetic Factorsmentioning

confidence: 97%

Malignancy in Renal Transplantation

Morath¹,

Mueller²,

Goldschmidt³

et al. 2004

Journal of the American Society of Nephrology

193

115

View full text Add to dashboard Cite

Section: Genetic Factorsmentioning

confidence: 97%

Malignancy in Renal Transplantation

Morath¹,

Mueller²,

Goldschmidt³

et al. 2004

Journal of the American Society of Nephrology

193

115

View full text Add to dashboard Cite

“…Kidney transplantation (recurrence of the glomerular pheno-type has not yet been observed) and early bilateral nephrectomy before the development of Wilms' tumor are life-saving treatments. However, a late manifestation of Wilms' tumor after renal transplantation in a child with retrospectively suspected DDS has been observed (26).…”

Section: Denys-drash Syndromementioning

confidence: 99%

Wilms' Tumor Suppressor Gene WT1

Mrowka¹,

Schedl²

2000

Journal of the American Society of Nephrology

View full text Add to dashboard Cite

Abstract.Normal development of the kidney is a highly complex process that requires precise orchestration of proliferation, differentiation, and apoptosis. In the past few years, a number of genes that regulate these processes, and hence play pivotal roles in kidney development, have been identified. The Wilms' tumor suppressor geneWT1has been shown to be one of these essential regulators of kidney development, and mutations in this gene result in the formation of tumors and developmental abnormalities such as the Denys-Drash and Frasier syndromes. A fascinating aspect of theWT1gene is the multitude of isoforms produced from its genomic locus. In this review, our current understanding of the structural features ofWT1, how they modulate the transcriptional and post-transcriptional activities of the protein, and how mutations affecting individual isoforms can lead to diseased kidneys is summarized. In addition, results from transgenic experiments, which have yielded important findings regarding the function of WT1in vivo, are discussed. Finally, data on the unusual feature of RNA editing ofWT1transcripts are presented, and the relevance of RNA editing for the normal functioning of the WT1 protein in the kidney is discussed.

show abstract

Denys‐Drash andFrasier Syndromes

Clericuzio

2005

Management of Genetic Syndromes

View full text Add to dashboard Cite

Denys‐Drash and Frasier syndromes represent a spectrum of disorders of genitourinary development and neoplasia caused by autosomal dominant mutations in the WT1 tumor‐suppressor gene. Denys‐Drash syndrome is classically defined by the clinical triad of incomplete male genital development, early‐onset nephropathy, and Wilms tumor. Frasier syndrome is defined as the triad of XY gonadal dysgenesis (i.e., phenotypic females with 46,XY karyotype and streak gonads), childhood‐onset renal failure, and gonadoblastoma. XX females can also have WT1 mutations and develop nephropathy and tumors but have normal female genitalia and thus are not recognized until these complications develop. While, in general, there is a phenotype/genotype correlation between these syndromes and the types of WT1 mutations, in reality there is great overlap in the clinical presentations and types of mutations, such that many affected individuals have intermediate phenotypes and others have incomplete phenotypes. Hence Denys‐Drash syndrome and Frasier syndrome are best thought of as “ WT1 spectrum disorders,” and individuals with any features of the clinical spectrum should be considered at risk for WT1 mutations and associated nephropathy and tumors.

show abstract

Unexpected Wilms’ tumor in a pediatric renal transplant recipient: suspected Denys-Drash syndrome

Cited by 7 publications

References 9 publications

Malignancy in Renal Transplantation

Malignancy in Renal Transplantation

Wilms' Tumor Suppressor Gene WT1

Denys‐Drash andFrasier Syndromes

Contact Info

Product

Resources

About