483 MD and [18F]FDG-PET/CT: complementing techniques or waste of valuable resources? 12 alterations (Table 6 and 7). Five malignant/borderline nodules that were MD-/[18F]FDG+ (i.e., falsenegative/true-positive) included one NIFTP, one FT-UMP with oncocytic changes, one intrathyroidal paraganglioma, one 8-mm PTC, and one 37-mm follicular thyroid carcinoma. There were more MD positive nodules among the [18F]FDG positive benign nodules (25/59, 42%) than among the [18F]FDG negative benign nodules (7/37, 19%, p=0.02)(Table 5). Eleven of these 25 (44%) MD+/[18F]FDG+ benign nodules had an isolated RAS mutation, as compared to no RAS mutations among the MD+/[18F]FDG- benign nodules (p=0.006) (Supplementary Table 5). Table 6. Observed pathogenic molecular alterations and their concurrent diagnosis ROM Molecular alteration n Malignant Borderline Benign Unchanged on f/u MD positive High ROM ~95%-100% BRAF V600E 2 2 0 0 0 NTRK3 fusion 1 1 0 0 0 RAS + TERT 2 1 0 0 1c RAS + TERT + GH type CNAa 1 1 0 0 0 RAS + TP53 + EIF1AX 1 1 0 0 0 RET 1 1 0 0 0 TERT + GH type CNAa 1 0 0 1 0 TNIK-TERT fusion + GH type CNAa 1 1 0 0 0 TP53 + GH type CNAa 5 3 0 2 0 Intermediate ROM ~30%-80% BRAF K601E 1 0 0 1 0 CDKN2A 1 0 0 0 1 DICER1 2 0 0 1 1 EGFR 1 0 0 1 0 EIF1AX 3 1 1 1 0 GH type CNAa 4 0 1 2 1c HRAS 5 1 2 2 0 KRAS 6 2 0 4 0 MAP2K1 1 0 0 1 0 NRAS 11 5 1 5 0 PAX8/PPARg 3 1 0 2 0 PPARg/PPARg 1 0 1 0 0 PTEN 3 0 0 2 1 RAS + EIF1AX 2 1 0 1 0 TERT 2 1 0 1 0 MD negative Low ROM ~<30% GH type CNAb 3 0 0 3 0 RCI type CNA 7 0 1 5 1 No class 4/5 alteration[687] or CNA 59 2 2 38 17 CNA, copy number alterations; f/u, follow-up; GH type, genome haploidization type; MD, molecular diagnostics; n, number; RCI type, reciprocal chromosomal imbalance type; ROM, rate of malignancy, defined as rate of malignancy or borderline tumour. a: GH type CNA in high- and intermediate-risk groups are defined as suspicious GH type CNA with 6-23 of 23 affected chromosomes, possible but often no heterogenicity, or GH type CNA with any number of chromosomes affected with (possible) endoreduplication [695]. b: Low risk GH type CNA concern limited, unsuspicious GH type CNA with 1-5 of 23 affected chromosomes, possible heterogenicity, and no signs of endoreduplication [695]. c: patient declined the advised diagnostic surgery.
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