Next-generation sequencing in thyroid cancer

Table 2 Application of next-generation sequencing in the thyroid nodule with indeterminate cytology

Author (year)	Sample type	Patient number	Histologic diagnosis	Platform	Mutational panel	Analytic process tool	Sensitivity (%)	Specificity (%)	PPV (%)	NPV (%)	Accuracy (%)
Nikiforov et al. [34]	FNA	143	Retrospecfic cohort (N = 91): 27 mutation positive: 2 PTC, 18 FVPTC, 3 FC, 2 FA, 2 HN Prospecfive cohort (N = 52): 15 mutation positive: 1 PTC, 8 FVPTC, 3 FC, 2 FA, 1 HN	Ion Torrent PGM	ThyroSeq v2	N/A	90	93	83	96	92
Le Mercier et al. [35]	Cell blocks (FFPE) and smears	34	8 mutation positive: 1 PTC, 1 FVPTC, 2 MIFC, 1 FTUMP, 3 FA	Ion Torrent PGM	AmpliSeq Cancer hotspot panel version 2	Torrent Suit version 3.6.2	71	89	62	92	85
Le Mercier et al. [35]	Cell blocks (FFPE) and smears	34	8 mutation positive: 1 PTC, 1 FVPTC, 2 MIFC, 1 FTUMP, 3 FA	Ion Torrent PGM	Ion AmpliSeq HiFi Master Mix	Variant Caller plug-in version 3.6	71	89	62	92	85
Nikiforov et al. [44]	FNA	465	96 nodules resected 31 mutation positive: 2 PTC, 18 FVPTC, 4 FA, 2 HN	Ion Torrent PGM and Ion proton	ThyroSeq v2.1	N/A	91	92	77	97	92

PPV positive predictive value, NPV negative predictive value, FNA fine needle aspiration, PTC papillary thyroid carcinoma, FVPTC follicular variant papillary thyroid carcinoma, FA follicular adenoma, HN hyperplastic nodule, N/A not applicable, FFPE formalin-fixed, paraffin-embedded, MIFC minimally invasive follicular carcinoma, FTUMP follicular tumor with uncertain malignant potential, MNG multinodular goite

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