DICER1 syndrome and thyroid disease
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- 作者：Michael Canfarottaa ; 1 ; Rebecca Riba-Wolmanb ; 2 ; Andrea D. Orseyc ; 3 ; Fabiola Balarezod ; 4 ; Christine Fincke ; cfinck@connecticutchildrens.org" class="auth_mail" title="E-mail the corresponding author
- 关键词：DICER1 ; Multinodular goiter ; Ovarian Sertoli-Leydig cell tumor ; Cancer predisposition syndrome ; Pediatric onset tumors
- 刊名：Journal of Pediatric Surgery Case Reports
- 出版年：2016
- 出版时间：August 2016
- 年：2016
- 卷：11
- 期：Complete
- 页码：31-34
- 全文大小：1282 K
文摘
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We report a case of a young female with DICER1 syndrome.
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Multinodular goiter was detected on surveillance thyroid ultrasound.
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We propose an algorithm for the management of thyroid disease in patients with a known or suspected DICER1 mutation.
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Long term follow-up studies of patients with DICER1 syndrome are necessary to develop surveillance guidelines.