Prevalence of DICER1 variants in large multinodular goiter: thyroid function, clinical and imaging characteristics.

ABSTRACT:

Objective

Mutations in DICER1 are found in differentiated thyroid carcinoma (DTC) and in multinodular goiter (MNG) at a younger age with other tumors, which characterizes DICER1 syndrome. DICER1 is one driver to DTC; however, it is also found in benign nodules. We speculated that patients with mutations in DICER1 may present long-lasting MNG. Our aim was to investigate the frequency of DICER1 variants in patients with MNG.

Subjects and methods

Patients who submitted to total thyroidectomy due to large MNG with symptoms were evaluated. DICER1 hotspots were sequenced from thyroid nodule samples. To confirm somatic mutation, DNA from peripheral blood was also analyzed.

Results

Among 715 patients, 154 were evaluated with 56.2 ± 12.3 years old (28-79) and the thyroid volum

SUBMITTER: Cabral Miranda LJ 

PROVIDER: S-EPMC10948041 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature