Prevalence and Spectrum of DICER1Mutations in Adult-Onset Thyroid Nodules

Abstract Context: DICER1 mutations are found in multinodular goiter and differentiated thyroid carcinoma children, can be a manifestation of syndrome, but the prevalence their significance adult-onset nodules is unknown. Objective: Determine 1) hotspot nodules; 2) frequency second pathogenic variant with mutations; 3) other cancer driver without mutations. Design: Population-based study 14,993 consecutive fine needle aspiration biopsies evaluated by ThyroSeq v3. From 214 hotspot-positive cases, we selected 61, matched to hotspot-negative nodules. We performed full sequencing all exons exon-intron boundaries DICER1. Setting: Commercial university-based laboratories United States Canada Results: Among nodules, (1.4%) revealed mutation. A pathogenic/likely was 45/59 (76%) studied while no identified group sequencing. Other alterations thyroid-related genes were significantly more frequent (32/61) than (4/59) (p<0.0001). Conclusions: occur proportion adult appear mutually exclusive cancer-related genes. hit most cases could suggest occult syndrome adults