
pmid: 37642568
A 7-year-old boy with a history of pleuropulmonary blastoma after resection 6 years prior and germline DICER1 mutation was being monitored by physicians at a multidisciplinary genetic predisposition clinic. He demonstrated no evidence of recurrent pleuropulmonary blastoma, and his renal US, chest radiographic, and ocular screening examination results remained normal. Per age-directed screening guidelines, he underwent thyroid US (Figs 1-3). He had no signs or symptoms of hyper- or hypothyroidism. Physical examination was notable for the absence of thyromegaly or palpable nodule. US at 12-month follow-up showed no change in size or appearance of the left lobe (not shown). However, at this time, the Thyroid Imaging Reporting and Data System (TI-RADS) classification scheme was applied to the stable left lobe finding. The findings were discussed at a multidisciplinary thyroid nodule conference, and the decision was made to bring the patient back for a short-term follow-up for limited unenhanced MRI without sedation (Fig 4). A diagnosis was made based on the follow-up imaging findings.
Male, DEAD-box RNA Helicases, Ribonuclease III, Face, Humans, Genetic Predisposition to Disease, Eye, Child, Pulmonary Blastoma, Germ-Line Mutation
Male, DEAD-box RNA Helicases, Ribonuclease III, Face, Humans, Genetic Predisposition to Disease, Eye, Child, Pulmonary Blastoma, Germ-Line Mutation
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