RESUMO

OBJECTIVES: To present a case of a new pathogenic variant of DICER1. CASE PRESENTATION: 13-year-old female with non-toxic multinodular goiter and ovarian Sertoli-Leydig cell tumor, in whom a pineal parenchymal tumor of intermediate differentiation was diagnosed. Next-generation sequencing revealed a new germline mutation in the DICER1 gene (exon 16, c2488del [pGlu830Serfs*2] in heterozygosis), establishing the diagnosis of DICER1 syndrome. CONCLUSIONS: Mutations in the DICER1 gene cause genetic predisposition to a wide spectrum of benign or malignant tumors from childhood to adulthood.

Assuntos

Neoplasias Encefálicas , Bócio , Neoplasias Ovarianas , Glândula Pineal , Pinealoma , Tumor de Células de Sertoli-Leydig , Masculino , Feminino , Humanos , Adolescente , Criança , Adulto Jovem , Tumor de Células de Sertoli-Leydig/genética , Tumor de Células de Sertoli-Leydig/patologia , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/patologia , Glândula Pineal/patologia , Diferenciação Celular/genética , Ribonuclease III/genética , RNA Helicases DEAD-box/genética