Nodular Goiter as the Presenting Symptom of DICER1 Tumor Predisposition Syndrome.

In the context of pediatric thyroid disorders, a goiter may serve as an indication of a thyroid tumor in rare instances. In even more unusual scenarios, the cancer can exhibit features of two different categories of carcinoma types. This presentation may suggest a familial tumor syndrome. We present a previously healthy child with an unusual thyroid tumor histology that led to genetic testing and a diagnosis of DICER1 syndrome, an incredibly rare genetic disorder.