Novel DICER1 mutation as cause of multinodular goiter in children

作者：Darrat Ilaaf; Bedoyan Jirair K; Chen Ming; Schuette Jane L; Lesperance Marci^*

来源：Head and Neck-Journal for the Sciences and Specialties of the Head and Neck, 2013, 35(12): E369-E371.

DOI：10.1002/hed.23250

• DICER1
• multinodular goiter
• ovarian Sertoli-Leydig cell tumors
• tumor surveillance
• family history

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.

• 出版日期2013-12