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. 2021 Dec;49(12):1265-1271.
doi: 10.1002/dc.24897. Epub 2021 Oct 26.

Feasibility and performance of the Idylla™ NRAS/BRAF cartridge mutation assay on thyroid liquid-based fine-needle aspiration

Maud Hamadou  1 , Jonathan Lopez  1   2   3 , Nazim Benzerdjeb  3   4 , Christine Cugnet-Anceau  5 , Gwenaelle Schnoering  1 , Julie Besançon  4 , Saliha Mezrag  4 , Veronique Lapras  6 , Marie-Laure Denier  6 , Françoise Descotes  1 , Myriam Decaussin-Petrucci  3   4
Affiliations

Feasibility and performance of the Idylla™ NRAS/BRAF cartridge mutation assay on thyroid liquid-based fine-needle aspiration

Maud Hamadou et al. Diagn Cytopathol. 2021 Dec.

Abstract

Background: 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).

Methods: 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.

Results: 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.

Conclusion: 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.

Keywords: Idylla™; liquid-based fine-needle aspiration; molecular testing; thyroid nodule.

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