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[Cytopathological features of thyroid tumors with DICER1 mutation]
1Department of Pathology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200233, China.
Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology
|April 30, 2025
Summary
DICER1-mutated thyroid tumors often show macrofollicles and small, dark nuclei on cell smears, making diagnosis challenging. Careful observation of these features can prompt genetic testing for DICER1 mutations, aiding preoperative diagnosis.
Area of Science:
- Oncology
- Genetics
- Cytopathology
Context:
- Thyroid tumors with DICER1 mutations present unique diagnostic challenges in cytopathology.
- Accurate preoperative diagnosis is crucial for effective patient management.
Purpose:
- To investigate and characterize the cytopathological features of thyroid tumors harboring DICER1 gene mutations.
- To correlate cytopathological findings with histological diagnoses and DICER1 mutation status.
Summary:
- A retrospective study analyzed 163 thyroid tumors, identifying 15 (9.2%) with DICER1 mutations (D1709 and E1813 hotspots).
- Cytopathological findings included predominant macrofollicular patterns with uniform, small, round, dark nuclei; RAS-like nuclear features were noted in some cases.
- Diagnostic categories ranged from II to V, with postoperative diagnoses including follicular thyroid carcinoma, adenoma, and indeterminate tumors.
Impact:
- Identifies key morphological features of DICER1-mutated thyroid tumors on cell smears.
- Highlights the difficulty in differentiating benign from malignant lesions preoperatively based solely on morphology.
- Emphasizes the importance of considering DICER1 genetic testing for accurate preoperative diagnosis and management of these tumors.
