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

Autor(es)

Guaragna, Mara Sanches ; Ledesma, Felipe Lourenco ; Manzano, Victoria Zavanelli ; Maciel-Guerra, Andrea Trevas ; Guerra-Junior, Gil ; Silva, Marcelo Milone ; de Brito, Pedro Luiz ; de Mello, Maricilda Palandi

• Tipo de documento: Artigo Científico
• Fonte: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM; v. 35, n. 6, p. 7-pg., 2022-03-21.

Resumo

Background 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. (AU)

• Processo FAPESP: 15/20502-6 - Estudo de Sequenciamento Completo de Exomas em Crianças e Adolescentes Brasileiros com Síndrome Nefrótica Córtico-Resistente
• Beneficiário: Maricilda Palandi de Mello
• Modalidade de apoio: Auxílio à Pesquisa - Regular