449 A clinically applicable molecular classification of oncocytic cell thyroid nodules 11 Figure 2. Flowchart for systematic interpretation of CNA-LOH analysis Flowchart for the systematic interpretation of the SNP array plots visualizing the results of CNA-LOH analysis using the GWLOH v2 panel, in order to establish a molecular diagnosis. First, the CNA type is identified as GH type, RCI type, or no CNA. GH type CNA, defined by loss of heterozygosity and chromosomal losses, are further characterized by assessing the number of affected chromosomes, the presence of heterogenicity of the alterations among the affected chromosomes, and the possible presence of endoreduplication. RCI type CNA are defined by (imbalanced) chromosomal copy number gains. No further characterization of these alterations is needed. Next, the results of somatic mutation and fusion analysis should be considered alongside the results of the CNA-LOH analysis. Finally, the molecular diagnosis is determined as (likely) benign, uncertain malignant, or malignant. *: in case a somatic mutation or gene fusion is identified that is uncommon in oncocytic cell neoplasms, whether or not in combination with atypical CNA patterns, re-evaluate the presence of true oncocytic cells in the sample (also see Table 3) and consider alternative diagnoses that may present with oncocytic cell metaplasia. †: including but not limited to TERT promoter or TP53 mutations. CNA, copy number alterations. CNA-LOH, copy number alterations and loss of heterozygosity. GH type, genome-haploidization type. GWLOH, genomewide loss of heterozygosity. RCI type, reciprocal chromosomal imbalance type.
RkJQdWJsaXNoZXIy MTk4NDMw