Indeterminate Thyroid Nodules: From Cytology to Molecular Testing
Thyroid cancer is the most common malignancy of the endocrine system. Fine-needle aspiration (FNA) biopsy of thyroid nodules has become the gold standard procedure, in terms of cost and efficacy, for guiding clinicians towards appropriate patients’ management. One challenge for cytopathologists is t...
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| Format: | Article |
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MDPI AG
2023-09-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/13/18/3008 |
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| author | Paola Vignali Elisabetta Macerola Anello Marcello Poma Rebecca Sparavelli Fulvio Basolo |
| author_facet | Paola Vignali Elisabetta Macerola Anello Marcello Poma Rebecca Sparavelli Fulvio Basolo |
| author_sort | Paola Vignali |
| collection | DOAJ |
| description | Thyroid cancer is the most common malignancy of the endocrine system. Fine-needle aspiration (FNA) biopsy of thyroid nodules has become the gold standard procedure, in terms of cost and efficacy, for guiding clinicians towards appropriate patients’ management. One challenge for cytopathologists is to accurately classify cytological specimens as benign or malignant based on cytomorphological features. In fact, with a frequency ranging from 10% to 30%, nodules are diagnosed as indeterminate. In recent years, the mutational landscape of thyroid tumors has been extensively described, and two molecular profiles have been identified: <i>RAS</i>-like (<i>NRAS</i>, <i>HRAS,</i> and <i>KRAS</i> mutations; <i>EIF1AX</i> mutations; <i>BRAF K601E</i> mutation; and <i>PPARG</i> and <i>THADA</i> fusions) and <i>BRAF</i><sup>V600E</sup>-like (including <i>BRAF</i><sup>V600E</sup> mutation and <i>RET</i> and <i>BRAF</i> fusions). The purpose of this review is to discuss the latest molecular findings in the context of indeterminate thyroid nodules, highlighting the role of molecular tests in patients’ management. |
| first_indexed | 2024-03-10T22:52:44Z |
| format | Article |
| id | doaj.art-e91e275d8f4344d6874c4408ed0261b3 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-10T22:52:44Z |
| publishDate | 2023-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-e91e275d8f4344d6874c4408ed0261b32023-11-19T10:14:36ZengMDPI AGDiagnostics2075-44182023-09-011318300810.3390/diagnostics13183008Indeterminate Thyroid Nodules: From Cytology to Molecular TestingPaola Vignali0Elisabetta Macerola1Anello Marcello Poma2Rebecca Sparavelli3Fulvio Basolo4Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Via Savi 10, 56126 Pisa, ItalyDepartment of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Via Savi 10, 56126 Pisa, ItalyDepartment of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Via Savi 10, 56126 Pisa, ItalyDepartment of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Via Savi 10, 56126 Pisa, ItalyDepartment of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Via Savi 10, 56126 Pisa, ItalyThyroid cancer is the most common malignancy of the endocrine system. Fine-needle aspiration (FNA) biopsy of thyroid nodules has become the gold standard procedure, in terms of cost and efficacy, for guiding clinicians towards appropriate patients’ management. One challenge for cytopathologists is to accurately classify cytological specimens as benign or malignant based on cytomorphological features. In fact, with a frequency ranging from 10% to 30%, nodules are diagnosed as indeterminate. In recent years, the mutational landscape of thyroid tumors has been extensively described, and two molecular profiles have been identified: <i>RAS</i>-like (<i>NRAS</i>, <i>HRAS,</i> and <i>KRAS</i> mutations; <i>EIF1AX</i> mutations; <i>BRAF K601E</i> mutation; and <i>PPARG</i> and <i>THADA</i> fusions) and <i>BRAF</i><sup>V600E</sup>-like (including <i>BRAF</i><sup>V600E</sup> mutation and <i>RET</i> and <i>BRAF</i> fusions). The purpose of this review is to discuss the latest molecular findings in the context of indeterminate thyroid nodules, highlighting the role of molecular tests in patients’ management.https://www.mdpi.com/2075-4418/13/18/3008thyroid cytologyfine-needle aspiration (FNA)<i>RAS</i>-like<i>BRAF</i>-likemolecular tests |
| spellingShingle | Paola Vignali Elisabetta Macerola Anello Marcello Poma Rebecca Sparavelli Fulvio Basolo Indeterminate Thyroid Nodules: From Cytology to Molecular Testing Diagnostics thyroid cytology fine-needle aspiration (FNA) <i>RAS</i>-like <i>BRAF</i>-like molecular tests |
| title | Indeterminate Thyroid Nodules: From Cytology to Molecular Testing |
| title_full | Indeterminate Thyroid Nodules: From Cytology to Molecular Testing |
| title_fullStr | Indeterminate Thyroid Nodules: From Cytology to Molecular Testing |
| title_full_unstemmed | Indeterminate Thyroid Nodules: From Cytology to Molecular Testing |
| title_short | Indeterminate Thyroid Nodules: From Cytology to Molecular Testing |
| title_sort | indeterminate thyroid nodules from cytology to molecular testing |
| topic | thyroid cytology fine-needle aspiration (FNA) <i>RAS</i>-like <i>BRAF</i>-like molecular tests |
| url | https://www.mdpi.com/2075-4418/13/18/3008 |
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