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DICER1 mutations in Bethesda III/IV thyroid cytology samples: A multicenter observational study
Afreen Karimkhan1, Rong Xia1, DeAnna Diaz2
1Department of Pathology, New York University Langone Health, New York, New York, USA.
Cancer Cytopathology
|September 12, 2025
Summary
DICER1 gene mutations in thyroid nodules are uncommon but linked to a higher cancer risk. These mutations lack specific features, making diagnosis challenging.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Mutations in the DICER1 gene are rare and not well understood in thyroid nodules.
- DICER1 mutations are infrequently identified in thyroid nodule cases.
Purpose of the Study:
- To investigate Bethesda category III/IV thyroid nodules with DICER1 gene mutations.
- To explore the clinical and histopathologic outcomes of nodules with DICER1 mutations.
Main Methods:
- Retrospective multicenter study over 6 years.
- Analysis of fine-needle aspiration cytology samples using ThyroSeq v3 molecular testing.
- Inclusion of patient demographics, clinical course, cytologic features, and histopathology.
Main Results:
- 88 patients with somatic DICER1 mutations were identified, predominantly female (mean age 39.6).
- Mutations were mainly in the somatic hotspot region, particularly at codon 5437.
- While most nodules were benign (65.9%), the malignancy rate was higher than the national average.
Conclusions:
- DICER1 mutations suggest an elevated risk of thyroid cancer.
- No specific cytologic or histopathologic features distinguish nodules with DICER1 mutations.
