Novel pathogenic variant of DICER1 in an adolescent with multinodular goiter, ovarian Sertoli-Leydig cell tumor and pineal parenchymal tumor of intermediate differentiation

J Pediatr Endocrinol Metab. 2023 Jun 13;36(8):782-785. doi: 10.1515/jpem-2023-0149. Print 2023 Aug 28.

Abstract

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.

Keywords: DICER1 syndrome; multinodular goiter; ovarian Sertoli–Leydig cell tumor; pineal parenchymal tumor of intermediate differentiation.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Brain Neoplasms*
  • Cell Differentiation / genetics
  • Child
  • DEAD-box RNA Helicases / genetics
  • Female
  • Goiter*
  • Humans
  • Ovarian Neoplasms* / genetics
  • Ovarian Neoplasms* / pathology
  • Pineal Gland* / pathology
  • Pinealoma*
  • Ribonuclease III / genetics
  • Sertoli-Leydig Cell Tumor* / genetics
  • Sertoli-Leydig Cell Tumor* / pathology
  • Young Adult

Substances

  • DICER1 protein, human
  • Ribonuclease III
  • DEAD-box RNA Helicases

Supplementary concepts

  • Androblastoma of ovary