| Autor: |
Maud, Hamadou, Jonathan, Lopez, Nazim, Benzerdjeb, Christine, Cugnet-Anceau, Gwenaelle, Schnoering, Julie, Besançon, Saliha, Mezrag, Veronique, Lapras, Marie-Laure, Denier, Françoise, Descotes, Myriam, Decaussin-Petrucci |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
Diagnostic cytopathologyREFERENCES. 49(12) |
| ISSN: |
1097-0339 |
| Popis: |
Thyroid nodules with indeterminate cytology represent up to 30% of cases. Molecular testing is now highly recommended to improve management. This study aimed to evaluate the use of the Idylla™ NRAS/BRAF mutation test, a rapid and automated polymerase chain reaction (PCR) assay validated for fixed paraffin-embedded use, on residual thyroid liquid-based fine-needle aspiration (LB-FNA).Concordance between mutations detected by the Idylla™ assay and the gold-standard qPCR was assessed by splitting in two aliquots 31 BRAF or RAS mutated and 5 non-mutated LB-FNA samples. Samples were obtained either from simulated FNA after thyroidectomy or from FNA obtained during routine care. A third aliquot was used to assess the limit of detection of Idylla™ for five mutated samples.The Idylla™ assay showed a sensitivity of 97% and a specificity of 83% as results were concordant for 34 out of 36 samples. One discordant sample concerned a BRAF p.K601E-mutation which is not detected by the Idylla™ cartridge. The other showed a false-positive NRAS p.A146T detection and a weak BRAF p.V600E detection. The limit of detection of the Idylla™ assay was not reached by the dilution assay.Idylla™ NRAS/BRAF mutation testing can be performed on residual thyroid LB-FNA, using low DNA quantity input, thus not requiring a dedicated sample. The Idylla™ NRAS/BRAF assay offers a quick and easy first step for analyzing the main molecular alterations in indeterminate thyroid nodules, hence improving diagnostic management. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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