儿童多发性结节性甲状腺肿的新型 DICER1 突变。
Novel DICER1 mutation as cause of multinodular goiter in children.
机构信息
Division of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, Michigan.
出版信息
Head Neck. 2013 Dec;35(12):E369-71. doi: 10.1002/hed.23250. Epub 2013 Jun 1.
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.
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.
摘要
背景
本报告旨在介绍一例罕见的青少年多结节性甲状腺肿（MNG）患者，该患者发现存在 DICER1 突变。
方法和结果
该方法包括对包括内分泌激素测试、甲状腺超声和 DICER1 基因检测在内的图表回顾进行介绍和讨论。一名 12 岁女孩因弥漫性甲状腺肿大就诊。家族史显示，其姐姐曾患有双侧卵巢 Sertoli-Leydig 细胞瘤和 MNG。甲状腺功能检查正常。连续的甲状腺超声显示双侧多个结节增大。细针穿刺抽吸提示 MNG。基因检测显示 DICER1 基因存在新的杂合性提前终止突变（c.1525C>T p.R509X）。
结论
儿童甲状腺结节罕见，但恶性风险较高。询问家族史并对有 MNG 家族史的患者进行遗传评估至关重要。在 DICER1 突变患者中，由于存在多种肿瘤（包括卵巢肿瘤和胸膜肺母细胞瘤）的风险增加，肿瘤监测至关重要。
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