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Clinical, molecular and radiological characteristics of thyroid nodules with somatic DICER1 mutations in adults
Background:
Information regarding DICER1-related thyroid tumors in children has accumulated; however, the clinical, molecular and radiological characteristics of thyroid nodules with DICER1 mutations in adults are largely unknown, especially those with somatic mutations.
Objective:
In this study, we sought to find clinical, molecular and radiological characteristics of thyroid diseases with somatic mutations in the DICER1 gene in adults.
Patients:
Patients (n = 21) aged ≥18 years with somatic DICER1-related thyroid tumors were enrolled.
Design:
From 1,289 patients who underwent genotyping for PTC-associated variants, 21 patients with 23 DICER1-related thyroid tumors and confirmed somatic DICER1 variants were selected and analyzed for clinical, molecular and radiographic features.
Results:
Somatic DICER1 variants were found in 21 of 1,289 (1.63%) patients with thyroid nodules in this study. All patients were female predominant. Eleven (11/23) were classified as benign and eight (8/23) were malignant, one was a follicular tumor of uncertain malignant potential (FT-UMP) with suspicious capsular invasion and three were under follow-up, in 23 DICER1-related nodules. Eleven nodules (11/23) had other pathogenic gene mutations (RAS and BRAF), and biallelic DICER1 mutations had a high prevalence, about 34.8% (8/23). Ten nodules (10/20) were combined with other tumors with non-DICER1 mutations. No patients had any local invasion or distant metastasis during follow-up. All DICER1-related nodules lacked unique sonographic features, but had the typical appearance of benign or malignant nodules on ultrasound (US).
Conclusion:
Somatic DICER1-mutated thyroid nodules in adults usually represent a distinct class of low-risk neoplasms, although they may be accompanied by variants in other thyroid cancer-related genes.
Insights
Adults with somatic DICER1-mutated thyroid nodules often have low-risk tumors. These nodules may co-occur with other gene mutations, but typically show no invasion or metastasis.
Area of Science:
- Oncology
- Genetics
- Endocrinology
Background:
- Limited data exists on adult thyroid nodules with DICER1 mutations, particularly somatic mutations.
- Previous research focused on pediatric DICER1-related thyroid tumors.
Purpose of the Study:
- To investigate the clinical, molecular, and radiological characteristics of adult thyroid diseases with somatic DICER1 gene mutations.
- To characterize adult thyroid nodules associated with somatic DICER1 variants.
Main Methods:
- Analysis of 23 DICER1-related thyroid tumors from 21 adult patients (≥18 years) with confirmed somatic DICER1 variants.
- Genotyping for PTC-associated variants was performed on 1,289 patients.
- Clinical, molecular, and radiographic features were assessed.
Main Results:
- Somatic DICER1 variants were identified in 1.63% (21/1,289) of adult patients with thyroid nodules.
- The majority of affected patients were female.
- Of 23 nodules, 11 were benign, 8 malignant, 1 uncertain malignant potential, and 3 under follow-up.
- Biallelic DICER1 mutations were prevalent (34.8%).
- No local invasion or distant metastasis was observed during follow-up.
- Ultrasound (US) findings were typical for benign or malignant nodules, lacking unique sonographic features.
Conclusions:
- Somatic DICER1-mutated thyroid nodules in adults generally represent low-risk neoplasms.
- These tumors may be associated with variants in other thyroid cancer-related genes.
- Adults with somatic DICER1 mutations in thyroid nodules typically have a favorable prognosis.
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