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

From: Next-generation sequencing in thyroid cancer

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
  1. 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