# A Novel Pathogenic Variant of DICER1 Gene in a Young Greek Patient with 2 Different Sex-Cord Ovarian Tumors and Multinodular Goiter

## TL;DR

A young Greek patient with two ovarian tumors and a goiter was found to have a new mutation in the DICER1 gene, which is linked to increased cancer risk.

## Contribution

A novel pathogenic variant in the DICER1 gene is reported in association with multiple tumors and multinodular goiter in a young patient.

## Key findings

- A new DICER1 gene variant was identified in a young patient with multinodular goiter and ovarian tumors.
- The case highlights the importance of considering DICER1 mutations in young patients with MNG and other neoplasms.
- SLCT and JGCT are rare tumor types associated with DICER1 syndrome, and this case adds to the clinical spectrum.

## Abstract

DICER1 syndrome (DICERs) represents a tumor predisposition genetic syndrome, inherited in an autosomal dominant manner. Germline loss-of-function variants of the DICER1 gene lead to impaired processing of microRNA, gene expression, and increased risk of tumorigenesis. Although pleuropulmonary blastoma (PPB) is the hallmark of the syndrome, multiple extrapulmonary malignant and non-malignant conditions have also been described, including multinodular goiter (MNG) and sex-cord stromal tumors. MNG is one of the most common components and is associated with an increased risk of thyroid carcinoma. Sertoli–Leydig cell tumor (SLCT) represents the most prevalent type of sex-cord stromal tumor associated with the syndrome, whereas juvenile granulosa cell tumor (JGCT) is considered to be a very rare phenotype. They both may present with abdominal pain due to mass effect and menstrual irregularities in case of hormone production. Although they exhibit low rates of mortality, recurrence rates highly depend on the grade of malignancy. Herein, we report a novel pathogenic DICER1 variant associated with MNG, bilateral ovarian SLCT, and JGCT in a young Greek patient. Clinicians should be aware of a potential germline DICER1 variant when evaluating MNG in young patients, especially if it coexists with other neoplasms.