Jackson S, Kumar G, Banizs AB, et al. Incremental utility of expanded mutation panel when used in combination with microRNA classification in indeterminate thyroid nodules. Diagn Cytopathol. 2019;1-10.

In this study, molecular results from 12,993 consecutive patient samples were reviewed for cases that either underwent testing with a focused mutation panel (n=8619) or an expanded mutation panel (ThyGeNEXT®, n=4374) for strong and weak oncogenic driver mutations and fusions. microRNA results predictive of malignancy, including strong positive results highly specific for malignancy, were examined. The expanded panel increased detection of strong and coexisting drivers by 8% (P<0.001) and 4% (P<0.001), respectively, and were highly correlated with positive microRNA results, of which 90% were strongly positive. 49% of nodules with weak drivers had positive microRNA results, of which 33% were strongly positive. The expanded panel also decreased the number of nodules lacking mutations and fusions by 15% (P<0.001), with 8% of nodules having positive microRNA results, of which 22% were strongly positive. The study concluded that using expanded mutation panels that include less common mutations and fusions can offer increased utility when used in combination with microRNA classification. 

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