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Indeterminate Thyroid Nodules: From Cytology to Molecular Testing.
Paola Vignali1, Elisabetta Macerola1, Anello Marcello Poma1
1Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Via Savi 10, 56126 Pisa, Italy.
Diagnostics (Basel, Switzerland)
|September 28, 2023
Summary
Thyroid nodules are often indeterminate, posing a diagnostic challenge. Molecular testing of these indeterminate thyroid nodules can help classify them, guiding better patient management and treatment strategies.
Area of Science:
- Endocrinology
- Oncology
- Molecular Biology
Background:
- Thyroid cancer is the most common endocrine malignancy.
- Fine-needle aspiration (FNA) biopsy is the standard for thyroid nodule evaluation.
- A significant percentage (10-30%) of thyroid nodules are classified as indeterminate by FNA, complicating patient management.
Purpose of the Study:
- To review recent molecular findings in indeterminate thyroid nodules.
- To highlight the utility of molecular tests in managing patients with indeterminate thyroid nodules.
Main Methods:
- Review of current literature on thyroid nodule molecular profiling.
- Analysis of identified molecular profiles in thyroid tumors.
Main Results:
- Two main molecular profiles identified: RAS-like and BRAF V600E-like.
- RAS-like profile includes NRAS, HRAS, KRAS mutations, EIF1AX mutations, BRAF K601E mutation, and PPARG/THADA fusions.
- BRAF V600E-like profile includes BRAF V600E mutation and RET/BRAF fusions.
Conclusions:
- Molecular profiling offers a pathway to better classify indeterminate thyroid nodules.
- Molecular tests are crucial for optimizing patient management strategies in cases of indeterminate thyroid nodules.
