Novel DICER1 mutation as cause of multinodular goiter in children
Copyright policy )Novel DICER1 mutation as cause of multinodular goiter in children
BackgroundThe aim of this report was to present a rare case of an adolescent with multinodular goiter (MNG) found to have a DICER1 mutation.Methods and ResultsThe 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.ConclusionsThyroid 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. © 2013 Wiley Periodicals, Inc. Head Neck 35: E369–E371, 2013
- University of Michigan–Ann Arbor United States
- Michigan Medicine United States
- University of Michigan United States
Ovarian Neoplasms, Ribonuclease III, Multinodular Goiter, Genetic Carrier Screening, Siblings, DICER1, DEAD-box RNA Helicases, Otolaryngology, Sertoli-Leydig Cell Tumor, Young Adult, Ovarian Sertoli‐Leydig Cell Tumors, Codon, Nonsense, Health Sciences, Humans, Female, Genetic Testing, Child, Family History, Germ-Line Mutation, Tumor Surveillance, Goiter, Nodular
Ovarian Neoplasms, Ribonuclease III, Multinodular Goiter, Genetic Carrier Screening, Siblings, DICER1, DEAD-box RNA Helicases, Otolaryngology, Sertoli-Leydig Cell Tumor, Young Adult, Ovarian Sertoli‐Leydig Cell Tumors, Codon, Nonsense, Health Sciences, Humans, Female, Genetic Testing, Child, Family History, Germ-Line Mutation, Tumor Surveillance, Goiter, Nodular
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).32 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
Citations provided by BIP!Popularity provided by BIP!