کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
4161060 | 1607122 | 2016 | 4 صفحه PDF | دانلود رایگان |
• We report a case of a young female with DICER1 syndrome.
• Multinodular goiter was detected on surveillance thyroid ultrasound.
• We propose an algorithm for the management of thyroid disease in patients with a known or suspected DICER1 mutation.
• Long term follow-up studies of patients with DICER1 syndrome are necessary to develop surveillance guidelines.
DICER1, a member of the ribonuclease III (RNase III) family, is known to play an important role in the post-transcriptional regulation of gene expression and germline mutations have been associated with a familial tumor susceptibility syndrome. In this report, we describe an 11-year-old female with a history of ovarian Sertoli-Leydig cell tumor resection and known DICER1 mutation (c.325C>T, p.Gln109*). She presented with multiple thyroid nodules on screening ultrasound. On fine needle aspiration she was found to have cytologic atypia, which in the general adult population confers a 5–15% risk of malignancy. Herein, we review the literature on DICER1 phenotype and pediatric thyroid disease and discuss management options.
Journal: Journal of Pediatric Surgery Case Reports - Volume 11, August 2016, Pages 31–34