Next-generation sequencing improves the diagnosis of thyroid FNA specimens with indeterminate cytology
| Autor: | Marie Le Mercier, Nancy De Nève, Caroline C. Degand, Sandrine Rorive, Isabelle Salmon, Oriane Blanchard, Nicky D'Haene |
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| Rok vydání: | 2014 |
| Předmět: |
Thyroid nodules
Neuroblastoma RAS viral oncogene homolog Adult Male Pathology medicine.medical_specialty Histology Biopsy Fine-Needle DNA Mutational Analysis medicine.disease_cause Pathology and Forensic Medicine medicine Humans Thyroid Nodule skin and connective tissue diseases neoplasms Thyroid cancer Retrospective Studies business.industry Thyroid Cancer High-Throughput Nucleotide Sequencing Nodule (medicine) General Medicine Sequence Analysis DNA Middle Aged medicine.disease body regions surgical procedures operative medicine.anatomical_structure Female KRAS Radiology medicine.symptom business Indeterminate |
| Zdroj: | Histopathology. 66(2) |
| ISSN: | 1365-2559 |
| Popis: | Aims The assessment of thyroid nodules is a common clinical challenge. Fine-needle aspiration (FNA) is the standard pre-operative tool for thyroid nodule diagnosis. However, up to 30% of the samples are classified as indeterminate. This often leads to unnecessary surgery. In this study, we evaluated the added value of next-generation sequencing (NGS) for helping in the diagnosis of FNA samples. Methods and results We analysed retrospectively 34 indeterminate FNA samples for which surgical resection was performed. DNA was obtained from cell blocks or from stained smears and subjected to NGS to analyse mutations in 50 genes. Mutations in BRAF, NRAS, KRAS and PTEN, that are known to be involved in thyroid cancer biology, were detected in seven FNA samples. The presence of a mutation in these genes was a strong indicator of cancer because five (71%) of the mutation-positive FNA samples had a malignant diagnosis after surgery. Moreover, there was only an 8% cancer risk in nodules with an indeterminate cytological diagnosis but with a negative molecular test. Conclusion This study demonstrates that thyroid FNA can be analysed successfully by NGS. The detection of mutations known to be involved in thyroid cancer improves the sensitivity of thyroid FNA diagnosis. |
| Databáze: | OpenAIRE |
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