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. METHODS AND 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.
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. METHODS AND 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.
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Authors: Nicholas E Khan; Andrew J Bauer; Kris Ann P Schultz; Leslie Doros; Rosamma M Decastro; Alexander Ling; Maya B Lodish; Laura A Harney; Ron G Kase; Ann G Carr; Christopher T Rossi; Amanda Field; Anne K Harris; Gretchen M Williams; Louis P Dehner; Yoav H Messinger; D Ashley Hill; Douglas R Stewart Journal: J Clin Endocrinol Metab Date: 2017-05-01 Impact factor: 5.958
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