DICER1 syndrome and thyroid disease

Abstract 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.