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

## TL;DR

A child with a rare thyroid tumor was diagnosed with DICER1 syndrome, a rare genetic disorder, after presenting with a goiter.

## Contribution

This case highlights the importance of considering rare genetic syndromes in children with unusual thyroid tumors.

## Key findings

- A previously healthy child presented with a thyroid tumor showing mixed histology.
- Genetic testing confirmed a diagnosis of DICER1 tumor predisposition syndrome.
- The case underscores the need for genetic evaluation in pediatric thyroid disorders.

## Abstract

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.