156 chapter 2 7-Gene Mutation Panel Our systematic literature search yielded 10 original studies that investigated a 7-gene mutation panel (GMP) in indeterminate thyroid nodules: five studies that were performed in the USA and referred to the miRInform® thyroid test [61, 69, 75, 97, 114], and five European studies that investigated various methods to test for the same 7-GMP, without referring to an existing commercial test [76, 93, 99, 100, 351]. All 10 studies that investigated a 7-GMP consisting of BRAF, RAS, RET/PTC and PAX8/PPARγ genetic alterations were included in our meta-analysis, with a total of 1,740 indeterminate thyroid nodules [61, 69, 75, 76, 93, 97, 99, 100, 114, 351] (Table 25). The individual genetic alterations were not reported by all studies. A double genetic alteration was reported once: a Bethesda IV nodule harbouring a 2.3 cm FVPTC carried both a NRAS mutation and a RET/PTC1 rearrangement [114]. Among the GMP positive Table 25. Baseline characteristics of included studies investigating 7-gene mutation panels reference country study design ntot ni included indeterminate cytology inclusion and exclusion criteria Nikiforov 2011* USA PS 1,056 461 Bethesda III or IV TN; FNAC with sufficient epithelial cells and nucleic acids for molecular analysis; histological f/u available Mancini 2012 Italy n.s. 260 48 Thy3 suspicious TN >5mm, FNAC sample positive for thyroglobulin Ohori 2013* USA RS 483 424 Bethesda IV, excluding SHCN/ HCN TN; no Hürthle cell cytology; histological f/u available BeaudenonHuibregtse 2014* USA PS 806 80 Bethesda III or IV adult with TN ≥1cm; FNAC with sufficient nucleic acids for molecular analysis; correct specimen handling and shipping; no duplicate or contaminated specimen Eszlinger 2014 (1) Denmark RS 310 164 indeterminate n.o.s. TN; air-dried FNAC slide available; histological f/u and FFPE samples available for mutation analysis Eszlinger 2014 (2) Germany PS 154 125 follicular neoplasm or microfollicular proliferation TN n.o.s. Eszlinger 2015 Italy RS 347 163 Thy3 TN >1cm; histological f/u available Giovanella 2015 Switzerland PS 61 61 Bethesda IV adult with solitary cold TN ≥10mm; suspicious on US; normal TSH and calcitonin; histologic f/u available Labourier 2015* USA RS 109 109 Bethesda III or IV TN; no history of cancer or previous radioiodine therapy; FNAC with sufficient nucleic acids for molecular analysis; histological f/u available Valderrabano 2016* USA RS 116 105 Bethesda III or IV TN n.o.s. TOTAL 3,702 1,740
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