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 |
| Ion AmpliSeq HiFi Master Mix | Variant Caller plug-in version 3.6 | ||||||||||
| 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