157 Diagnostic utility of molecular and imaging biomarkers 2 FNAC sample molecular technique residual material and FNAC needle washout miRInform® Thyroid Test FNAC needle wash-out HRM analysis and direct sequencing for BRAFV600E and BRAFK601E, NRAS codon 61, HRAS codon 61, KRAS codon 12-13 and codon 61 point mutations, and RET/PTC1, RET/PTC3 and PAX8/ PPARy rearrangements FNAC needle wash-out miRInform® Thyroid Test additional FNAC aspirate miRInform® Thyroid Test air-dried FNAC smears HRM analysis and pyrosequencing for BRAFV600E, BRAFK601E, NRAS codon 61, HRAS codon 61, KRAS codon 12, and KRAS codon 13 point mutations; multiplex qPCR for RET/PTC1, RET/PTC3 and PAX8/PPARy rearrangements air-dried FNAC smears PCR and pyrosequencing for BRAF, HRAS, KRAS and NRAS mutations, multiplex RT-qPCR for RET/PTC1, RET/PTC3 and PAX8/PPARy rearrangements air-dried FNAC smears real-time PCR, HRM and pyrosequencing for BRAFV600E, BRAFK601E, NRAS codon 61, HRAS codon 61, KRAS codon 12 and 13 point mutations; multiplex RT-qPCR and FMCA for RET/PTC1, RET/ PTC3 and PAX8/PPARy rearrangements representative archived FNAC slide direct sequencing for BRAFV600E, NRAS codon 61, HRAS codon 61, KRAS codon 12 and 13 point mutations; RT-PCR for RET/PTC1, RET/PTC3 and PAX8/PPARy rearrangements archived FNAC slides miRInform® Thyroid Test and ThyraMIR™ Thyroid miRNA classifier n.s. miRInform® Thyroid Test thyroid carcinomas, we distinguished 29 of the reported 51 PTC (57%), 108 of 201 FVPTC (54%), 23 of 65 FTC (35%), 5 of 16 FTC-OV (31%), 1 of 2 MTC (50%), 2 of 5 other thyroid carcinoma (40%), 27 of 38 unspecified malignancies (71%) and no mPTC (Table 26). FTC were significantly less frequently positive on GMP than PTC (Pearson chi-squared, p=0.02) or FVPTC (p=0.01). For FTC-OV, these differences were not significant (Fisher’s exact test, p=0.09 and p=0.12, respectively). Visual analysis of the forest plots suggests between study variance. I2 is 68.2% for sensitivity and 79.5% for specificity. Estimated pooled sensitivity, specificity, positive and negative LR are 47.4% (95% CI: 38.0%-56.9%), 93.4% (95% CI: 89.4%-96.0%), 7.22 (95% CI: 4.08-12.76) and 0.56 (95% CI: 0.46-0.68). The AUC is 0.78 (0.74-0.82) (Table 27, Figure 30 and Figure 31). For a given prevalence of malignancy of 15%, 25% or 40%, these results correspond to an estimated PPV and NPV of 56.0% (95% CI: 41.9%-69.3%) and 91.0% (95% CI: 89.2%-92.4%), 70.6% (95% CI: 57.6%-81.0%) and 84.2% (95% CI: 81.5%-86.6%), or 82.8% (95% CI: 73.1%-89.5%) and 72.7% (95% CI: 68.7%-76.3%), respectively (Figure 32). *: study applied MiRinform® test. FMCA: fluorescence melting curve analysis. HRM: high resolution melting. ni: number of indeterminate thyroid nodules. n.o.s.: not otherwise specified. ntot: total number of thyroid nodules in the study. PCR: polymerase chain reaction. PS: prospective. qPCR: quantitative PCR. RS: retrospective. RT-PCR: reverse transcription polymerase chain reaction. SHCN/HCN: cytology (suspicious for a) Hürthle cell neoplasm. TN: thyroid nodule.
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