459 A clinically applicable molecular classification of oncocytic cell thyroid nodules 11 CNA type no. of chromosomes involved Heterogeneity Endoreduplication Molecular driver (DNA + RNA) Molecular diagnosis no CNA none benign no CNA none benign no CNA BRAF non-v600E, c.1803A>T benign no CNA EIF1AX, c.338-1G>C benign RCI type EIF1AX, c.338-2A>T benign RCI type none benign RCI type none benign RCI type none benign RCI type none benign RCI type CDH1, c.220C>T benign GH type 3 / 23 yes no none benign GH type 4 / 23 possible no none benign GH type 4 / 23 possible no none benign GH type 10 / 23 yes no none uncertain malignant no CNA none benign RCI type none benign GH type 3 / 23 no no none benign GH type 4 / 23 no no none benign GH type 5 / 23 yes no TERT, c.-124C>T uncertain malignant GH type 8 / 23 no no None uncertain malignant GH type 11 / 23 yes no EIF1AX, c.338-2A>G malignant GH type 12 / 23 no possible TERT, c.-124C>T malignant GH type 13 / 23 yes, limited yes none malignant GH type 12 / 23 no possible none malignant GH type 15 / 23 yes, limited yes none malignant GH type 15 / 23 no possible none malignant GH type 17 / 23 no possible none malignant GH type 8 / 23 no inconclusive none uncertain malignant GH type 17 / 23 yes possible none malignant GH type 18 / 23 no possible TP53, c.1010_1011dupGC malignant *: nodules 12 and 13 are a left- and right-sided nodule in the same patient. Although CNA patterns appear similar in both nodules, further analysis of the SNP profiles demonstrated that the GH type alterations appeared in different alleles on chromosomes 13 and 22 of the two nodules. The lesions were therefore considered of different clonal origin and both included in the current study. ?, follow-up status of patient is unknown. AWD, alive with disease. CHS, cancer hotspot. CNA, copy number alterations. DOD, died of disease-related causes. F, female. FU, follow-up duration in months, measured from date of primary thyroid surgery until date of latest follow-up visit. GH type, genome haploidization type. OA, oncocytic thyroid adenoma. M, male. mi-OCA, minimally invasive oncocytic thyroid carcinoma. NED, no evidence of disease. NH-H, nodular hyperplasia with oncocytic cell metaplasia. RCI type, reciprocal chromosomal imbalance type. wi-OCA, widely invasive oncocytic thyroid carcinoma.
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