Bilateral Wilms’ tumor in a child with Denys-Drash syndrome: novel frameshift variant disrupts the WT1 nuclear location signaling region-Reference-Cited by-同舟云学术

Bilateral Wilms’ tumor in a child with Denys-Drash syndrome: novel frameshift variant disrupts the WT1 nuclear location signaling region

Published:2022-03-21 Issue:6 Volume:35 Page:837-843
ISSN:0334-018X
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:en
Short-container-title:

Author:

Guaragna Mara Sanches¹²^ORCID,Ledesma Felipe Lourenço³,Manzano Victoria Zavanelli⁴,Maciel-Guerra Andréa Trevas²⁵,Guerra-Júnior Gil²⁶,Silva Marcelo Milone⁷,Luiz de Brito Pedro⁷,Palandi de Mello Maricilda¹²

Affiliation:

1. Center for Molecular Biology and Genetic Engineering – CBMEG, State University of Campinas , São Paulo , Brazil

2. Interdisciplinary Group for the Study of Sex Determination and Differentiation – GIEDDS , State University of Campinas , São Paulo , Brazil

3. Department of Pathology , Clinical Hospital of the University of São Paulo School of Medicine , São Paulo , Brazil

4. Santa Casa de São Paulo School of Medical Sciences , São Paulo , Brazil

5. Department of Medical Genetics and Genomic Medicine , School of Medical Sciences, State University of Campinas , São Paulo , Brazil

6. Department of Pediatrics , School of Medical Sciences, State University of Campinas , São Paulo , Brazil

7. Children and Adolescents Cancer Center (GACC) São José dos Campos , São Paulo , Brazil

Abstract

Abstract Objectives Wilm’s Tumor (WT) is the most common pediatric kidney cancer. Whereas most WTs are isolated, approximately 5% are associated with syndromes such as Denys-Drash (DDS), characterized by early onset nephropathy, disorders of sex development and predisposition to WT. Case presentation A 46,XY patient presenting with bilateral WT and genital ambiguity without nephropathy was heterozygous for the novel c.851_854dup variant in WT1 gene sequence. This variant affects the protein generating the frameshift p.(Ser285Argfs*14) that disrupts a nuclear localization signal (NLS) region. Conclusions This molecular finding is compatible with the severe scenario regarding the Wilm’s tumor presented by the patient even though nephropathy was absent.

Funder

Fundação de Amparo à Pesquisa do Estado de São Paulo

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2021-0673/pdf

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