A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation?

Pediatr Blood Cancer. 2018 Jan;65(1). doi: 10.1002/pbc.26715. Epub 2017 Aug 2.


DICER1 syndrome is an inherited disorder associated with at least a dozen rare, mainly pediatric-onset tumors. Its characterization remains incomplete. Some studies suggested that neuroblastoma (NB) may be involved in this syndrome. Here, we describe the case of a 14-year-old female presenting with a multinodular goiter (MNG) and a collision tumor composed of NB and cystic nephroma (CN). She is a carrier of a deleterious germline mutation in exon 23 of DICER1 and harbored different somatic mutations in the CN and MNG. However, no second hit was found in the NB, questioning its status as a DICER1-related tumor.

Keywords: DICER1; cystic nephroma; multinodular goiter; mutation; neuroblastoma; syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • DEAD-box RNA Helicases / genetics*
  • Exons*
  • Female
  • Germ-Line Mutation*
  • Goiter, Nodular / enzymology
  • Goiter, Nodular / genetics*
  • Humans
  • Neoplastic Syndromes, Hereditary / enzymology
  • Neoplastic Syndromes, Hereditary / genetics*
  • Neuroblastoma / enzymology
  • Neuroblastoma / genetics*
  • Ribonuclease III / genetics*


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