title: Novel DICER1 mutation as cause of multinodular goiter in children.
abstract: BACKGROUND
  The aim of this report was to present a rare case of an adolescent with multinodular goiter (MNG) found to have a DICER1 mutation.
  
  
  RESULTS
  The methodology includes a presentation and discussion of a chart review including endocrine hormone tests, thyroid ultrasound, and genetic testing for DICER1. A 12-year-old girl presented with a diffusely enlarged thyroid gland. Family history revealed an older sister with a history of bilateral ovarian Sertoli-Leydig cell tumors and MNG. Thyroid function tests were normal. Serial thyroid ultrasounds showed enlarging multiple bilateral nodules. Fine-needle aspiration suggested MNG. Genetic testing revealed a novel heterozygous premature termination mutation (c.1525C>T p.R509X) in the DICER1 gene.
  
  
  CONCLUSIONS
  Thyroid nodules are rare in children but carry a higher risk for malignancy. It is essential to inquire about family history and refer for genetic evaluation with a family history of MNG. In patients with DICER1 mutations, tumor surveillance is critical due to the increased risk of multiple tumors, including ovarian tumors and pleuropulmonary blastoma.
authors.affiliation: Division of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, Michigan.
authors.forename: Ilaaf
authors.initials: I
authors.lastname: Darrat
authors.forename: Jirair K
authors.initials: JK
authors.lastname: Bedoyan
authors.forename: Ming
authors.initials: M
authors.lastname: Chen
authors.forename: Jane L
authors.initials: JL
authors.lastname: Schuette
authors.forename: Marci M
authors.initials: MM
authors.lastname: Lesperance
mesh_terms: D002648:Child; D018389:Codon, Nonsense; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006044:Goiter, Nodular / Q000235:genetics; D006801:Humans; D010051:Ovarian Neoplasms / Q000235:genetics; D043244:Ribonuclease III / Q000235:genetics*; D018310:Sertoli-Leydig Cell Tumor / Q000235:genetics; D035781:Siblings; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; C408087:DICER1 protein, human; D043244:Ribonuclease III; D053487:DEAD-box RNA Helicases
keywords: DICER1; family history; multinodular goiter; ovarian Sertoli-Leydig cell tumors; tumor surveillance